From 9c84f268f5bc520b7ce30cb0cf747d830e7988f5 Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Tue, 30 Jan 2024 10:05:46 +0100 Subject: [PATCH] feat: adding store/strucvarInfo (#41) --- src/api/mehari/client.ts | 2 +- src/api/mehari/types.ts | 6 +- .../fixture.clinvarSvRecords.BRCA1.json | 3506 +++++++++++++++++ .../fixture.responseCsqDel.BRCA1.json | 36 + src/store/strucvarInfo/index.ts | 1 + src/store/strucvarInfo/store.spec.ts | 135 + src/store/strucvarInfo/store.ts | 109 + 7 files changed, 3791 insertions(+), 4 deletions(-) create mode 100644 src/components/StrucvarClinvarCard/fixture.clinvarSvRecords.BRCA1.json create mode 100644 src/store/strucvarInfo/fixture.responseCsqDel.BRCA1.json create mode 100644 src/store/strucvarInfo/index.ts create mode 100644 src/store/strucvarInfo/store.spec.ts create mode 100644 src/store/strucvarInfo/store.ts diff --git a/src/api/mehari/client.ts b/src/api/mehari/client.ts index 5d95777..62a2dc9 100644 --- a/src/api/mehari/client.ts +++ b/src/api/mehari/client.ts @@ -2,7 +2,7 @@ import type { LinearStrucvar, Seqvar } from '../../lib/genomicVars' import { SeqvarResult, StrucvarResult } from './types' /** API base URL to use. */ -const API_BASE_URL = '/internal/proxy/pubtator3-api' +const API_BASE_URL = '/internal/proxy/mehari/' /** * Client for Mehari API requests. diff --git a/src/api/mehari/types.ts b/src/api/mehari/types.ts index ca436b9..2969699 100644 --- a/src/api/mehari/types.ts +++ b/src/api/mehari/types.ts @@ -443,7 +443,7 @@ export interface StrucvarResult$Api { /** The original query records. */ query: SeqvarQuery$Api /** The resulting records for the scored genes. */ - result: SeqvarResultEntry$Api[] + result: GeneTranscriptEffects$Api[] } /** @@ -455,7 +455,7 @@ export interface StrucvarResult { /** The original query records. */ query: SeqvarQuery /** The resulting records for the scored genes. */ - result: SeqvarResultEntry[] + result: GeneTranscriptEffects[] } /** @@ -467,7 +467,7 @@ class StrucvarResult$Type { return { version: Version.fromJson(json.version), query: SeqvarQuery.fromJson(json.query), - result: json.result.map((entry) => SeqvarResultEntry.fromJson(entry)) + result: json.result.map((entry) => GeneTranscriptEffects.fromJson(entry)) } } } diff --git a/src/components/StrucvarClinvarCard/fixture.clinvarSvRecords.BRCA1.json b/src/components/StrucvarClinvarCard/fixture.clinvarSvRecords.BRCA1.json new file mode 100644 index 0000000..6963be1 --- /dev/null +++ b/src/components/StrucvarClinvarCard/fixture.clinvarSvRecords.BRCA1.json @@ -0,0 +1,3506 @@ +[ + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196311, + "stop": 41277501, + "innerStart": 41196311, + "outerStart": 41277501, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000981999", + "referenceAssertions": [ + { + "rcv": "RCV001261491", + "title": "NC_000017.11:g.(?_43044294)_(43125484_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4451694264722009 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196353, + "stop": 41277500, + "innerStart": 41196353, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000830640", + "referenceAssertions": [ + { + "rcv": "RCV001031258", + "title": "NC_000017.11:g.(?_43044336)_(43125483_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.44504406675551317 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196353, + "stop": 41277500, + "innerStart": 41196353, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000832396", + "referenceAssertions": [ + { + "rcv": "RCV001032884", + "title": "NC_000017.11:g.(?_43044336)_(43125483_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.44504406675551317 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196977, + "stop": 41277500, + "innerStart": 41196977, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001068881", + "referenceAssertions": [ + { + "rcv": "RCV001380559", + "title": "NC_000017.10:g.(?_41196977)_(41277500_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.44313835553867914 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197675, + "stop": 41277500, + "innerStart": 41197675, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000583655", + "referenceAssertions": [ + { + "rcv": "RCV000707938", + "title": "NC_000017.11:g.(?_43045658)_(43125483_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4409910780874513 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197675, + "stop": 41277500, + "innerStart": 41197675, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000661189", + "referenceAssertions": [ + { + "rcv": "RCV000818556", + "title": "NC_000017.10:g.(?_41197675)_(41277500_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4409910780874513 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196311, + "stop": 41276133, + "innerStart": 41196311, + "outerStart": 41276133, + "outerStop": 41277287, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000981965", + "referenceAssertions": [ + { + "rcv": "RCV001261455", + "title": "NC_000017.11:g.(?_43044294)_(43124116_43125270)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4409818133604402 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196311, + "stop": 41276133, + "innerStart": 41196311, + "outerStart": 41276133, + "outerStop": 41277287, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000982016", + "referenceAssertions": [ + { + "rcv": "RCV001261508", + "title": "NC_000017.11:g.(?_43044294)_(43124116_43125270)dup AND not specified", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4409818133604402 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197694, + "stop": 41277500, + "innerStart": 41197694, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373875", + "referenceAssertions": [ + { + "rcv": "RCV000412990", + "title": "NG_005905.2:g.(?_92501)_(172307_?)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.44093239629605074 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41198799, + "stop": 41277749, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000560136", + "referenceAssertions": [ + { + "rcv": "RCV000678013", + "title": "Single allele AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4368935272565782 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197694, + "stop": 41276133, + "innerStart": 41197694, + "outerStart": 41276133, + "outerStop": 41277287, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373867", + "referenceAssertions": [ + { + "rcv": "RCV000413553", + "title": "NG_005905.2:g.(92714_93868)_(172307_?)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4366778192830779 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197689, + "stop": 41276119, + "innerStart": 41197689, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000462178", + "referenceAssertions": [ + { + "rcv": "RCV000534463", + "title": "NC_000017.10:g.(?_41197689)_(41276119_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4366495935864603 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41199640, + "stop": 41277500, + "innerStart": 41199640, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000651258", + "referenceAssertions": [ + { + "rcv": "RCV000806576", + "title": "NC_000017.11:g.(?_43047623)_(43125483_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4348561854230662 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41199659, + "stop": 41277500, + "innerStart": 41199659, + "innerStop": 41197820, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373871", + "referenceAssertions": [ + { + "rcv": "RCV000414294", + "title": "NG_005905.2:g.(?_92501)_(170342_172181)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4347962084778614 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41199659, + "stop": 41277501, + "innerStart": 41199659, + "innerStop": 41197820, + "outerStart": 41277501, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001217257", + "referenceAssertions": [ + { + "rcv": "RCV001582366", + "title": "NC_000017.10:g.(41197820_41199659)_(41277501_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.43479377988292595 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41199650, + "stop": 41278377, + "innerStart": 41199650, + "outerStart": 41278377, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000831192", + "referenceAssertions": [ + { + "rcv": "RCV001031768", + "title": "NC_000017.11:g.(?_43047633)_(43126360_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.43270508067608954 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41199659, + "stop": 41276133, + "innerStart": 41199659, + "innerStop": 41197820, + "outerStart": 41276133, + "outerStop": 41277287, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001217237", + "referenceAssertions": [ + { + "rcv": "RCV001582346", + "title": "NC_000017.10:g.(41197820_41199659)_(41276133_41277287)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4304473613112392 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41199660, + "stop": 41276132, + "innerStart": 41199660, + "outerStart": 41276132, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000417591", + "referenceAssertions": [ + { + "rcv": "RCV000469795", + "title": "NC_000017.11:g.(?_43047643)_(43124115_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4304409496684716 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41199654, + "stop": 41276119, + "innerStart": 41199654, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001075234", + "referenceAssertions": [ + { + "rcv": "RCV001388760", + "title": "NC_000017.10:g.(?_41199654)_(41276119_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4304185077819369 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41201118, + "stop": 41277500, + "innerStart": 41201118, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000583577", + "referenceAssertions": [ + { + "rcv": "RCV000707879", + "title": "NC_000017.10:g.(?_41201118)_(41277500_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4301522762597707 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41201137, + "stop": 41277501, + "innerStart": 41201137, + "innerStop": 41199721, + "outerStart": 41277501, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV002506340", + "referenceAssertions": [ + { + "rcv": "RCV003236571", + "title": "NC_000017.10:g.(41199721_41201137)_(41277501_?)dup AND not specified", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.430088874370614 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41201139, + "stop": 41277500, + "innerStart": 41201139, + "innerStop": 41199721, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373877", + "referenceAssertions": [ + { + "rcv": "RCV000414500", + "title": "NG_005905.2:g.(?_92501)_(168862_170280)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.43008487702125026 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41201139, + "stop": 41277500, + "innerStart": 41201139, + "innerStop": 41199721, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000373878", + "referenceAssertions": [ + { + "rcv": "RCV000413357", + "title": "NG_005905.2:g.(?_92501)_(168862_170280)dup AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.43008487702125026 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41201137, + "stop": 41276133, + "innerStart": 41201137, + "innerStop": 41199721, + "outerStart": 41276133, + "outerStop": 41277287, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV001705087", + "referenceAssertions": [ + { + "rcv": "RCV002283412", + "title": "NC_000017.10:g.(41199721_41201137)_(41276133_41277287)dup AND not specified", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4256694629539237 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41201132, + "stop": 41276119, + "innerStart": 41201132, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV001011411", + "referenceAssertions": [ + { + "rcv": "RCV001309203", + "title": "NC_000017.10:g.(?_41201132)_(41276119_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4256401232851053 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41203060, + "stop": 41277500, + "innerStart": 41203060, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000831525", + "referenceAssertions": [ + { + "rcv": "RCV001032076", + "title": "NC_000017.11:g.(?_43051043)_(43125483_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.42385127825542335 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41203060, + "stop": 41277500, + "innerStart": 41203060, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001459038", + "referenceAssertions": [ + { + "rcv": "RCV001958807", + "title": "NC_000017.10:g.(?_41203060)_(41277500_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.42385127825542335 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41203079, + "stop": 41277500, + "innerStart": 41203079, + "innerStop": 41201212, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373859", + "referenceAssertions": [ + { + "rcv": "RCV000413875", + "title": "NG_005905.2:g.(?_92501)_(166922_168789)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.423788942606101 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197689, + "stop": 41267802, + "innerStart": 41197689, + "outerStart": 41267802, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000462175", + "referenceAssertions": [ + { + "rcv": "RCV000550289", + "title": "NC_000017.11:g.(?_43045672)_(43115785_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4092981442239774 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197689, + "stop": 41267802, + "innerStart": 41197689, + "outerStart": 41267802, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000462176", + "referenceAssertions": [ + { + "rcv": "RCV000528577", + "title": "NC_000017.10:g.(?_41197689)_(41267802_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4092981442239774 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41209048, + "stop": 41277500, + "innerStart": 41209048, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV001139589", + "referenceAssertions": [ + { + "rcv": "RCV001476314", + "title": "NC_000017.10:g.(?_41209048)_(41277500_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_LIKELY_BENIGN", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.40351445986253404 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41209068, + "stop": 41277500, + "innerStart": 41209068, + "innerStop": 41203135, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373873", + "referenceAssertions": [ + { + "rcv": "RCV000413760", + "title": "NG_005905.2:g.(?_92501)_(160933_166866)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.40344412870971924 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41209068, + "stop": 41277501, + "innerStart": 41209068, + "innerStop": 41203135, + "outerStart": 41277501, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV002573559", + "referenceAssertions": [ + { + "rcv": "RCV003317895", + "title": "NC_000017.10:g.(41203135_41209068)_(41277501_?)dup AND not specified", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.4034417502343432 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41209068, + "stop": 41276133, + "innerStart": 41209068, + "innerStop": 41203135, + "outerStart": 41276133, + "outerStop": 41277287, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV001301365", + "referenceAssertions": [ + { + "rcv": "RCV001733399", + "title": "NC_000017.10:g.(41203135_41209068)_(41276133_41277287)dup AND not specified", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3985973670916169 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215330, + "stop": 41277500, + "innerStart": 41215330, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000583843", + "referenceAssertions": [ + { + "rcv": "RCV000708101", + "title": "NC_000017.11:g.(?_43063313)_(43125483_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3805766405484819 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215330, + "stop": 41277500, + "innerStart": 41215330, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000830747", + "referenceAssertions": [ + { + "rcv": "RCV001031356", + "title": "NC_000017.11:g.(?_43063313)_(43125483_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3805766405484819 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215349, + "stop": 41277500, + "innerStart": 41215349, + "innerStop": 41209153, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373870", + "referenceAssertions": [ + { + "rcv": "RCV000413675", + "title": "NG_005905.2:g.(?_92501)_(154652_160848)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3805045885601288 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215349, + "stop": 41277501, + "innerStart": 41215349, + "innerStop": 41209153, + "outerStart": 41277501, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001878370", + "referenceAssertions": [ + { + "rcv": "RCV002510423", + "title": "NC_000017.10:g.(41209153_41215349)_(41277501_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3805022590638048 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215871, + "stop": 41277500, + "innerStart": 41215871, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000583707", + "referenceAssertions": [ + { + "rcv": "RCV000707984", + "title": "NC_000017.11:g.(?_43063854)_(43125483_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3785184775732562 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197675, + "stop": 41258570, + "innerStart": 41197675, + "outerStart": 41258570, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000831782", + "referenceAssertions": [ + { + "rcv": "RCV001032316", + "title": "NC_000017.11:g.(?_43045658)_(43106553_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.37570410587037667 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197689, + "stop": 41258556, + "innerStart": 41197689, + "outerStart": 41258556, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000531557", + "referenceAssertions": [ + { + "rcv": "RCV000638024", + "title": "NC_000017.11:g.(?_43045672)_(43106539_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3755962408288442 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197694, + "stop": 41258551, + "innerStart": 41197694, + "outerStart": 41258551, + "outerStop": 41267742, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373860", + "referenceAssertions": [ + { + "rcv": "RCV000414522", + "title": "NG_005905.2:g.(102259_111450)_(172307_?)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3755577085660333 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215330, + "stop": 41276152, + "innerStart": 41215330, + "outerStart": 41276152, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000831935", + "referenceAssertions": [ + { + "rcv": "RCV001032458", + "title": "NC_000017.11:g.(?_43063313)_(43124135_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3754228081870479 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215350, + "stop": 41276132, + "innerStart": 41215350, + "outerStart": 41276132, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000417595", + "referenceAssertions": [ + { + "rcv": "RCV000459348", + "title": "NC_000017.11:g.(?_43063333)_(43124115_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3752685649371496 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215344, + "stop": 41276119, + "innerStart": 41215344, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000584327", + "referenceAssertions": [ + { + "rcv": "RCV000708479", + "title": "NC_000017.10:g.(?_41215344)_(41276119_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3752415645355478 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215344, + "stop": 41276119, + "innerStart": 41215344, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001075233", + "referenceAssertions": [ + { + "rcv": "RCV001388759", + "title": "NC_000017.10:g.(?_41215344)_(41276119_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3752415645355478 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215885, + "stop": 41276119, + "innerStart": 41215885, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000531553", + "referenceAssertions": [ + { + "rcv": "RCV000638023", + "title": "NC_000017.11:g.(?_43063868)_(43124102_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3731477351571018 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41219605, + "stop": 41277500, + "innerStart": 41219605, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000650186", + "referenceAssertions": [ + { + "rcv": "RCV000805286", + "title": "NC_000017.11:g.(?_43067588)_(43125483_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3639312317314643 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41219605, + "stop": 41277500, + "innerStart": 41219605, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV002425720", + "referenceAssertions": [ + { + "rcv": "RCV003109644", + "title": "NC_000017.10:g.(?_41219605)_(41277500_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3639312317314643 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41219624, + "stop": 41277500, + "innerStart": 41219624, + "innerStop": 41215969, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373882", + "referenceAssertions": [ + { + "rcv": "RCV000414062", + "title": "NG_005905.2:g.(?_92501)_(150377_154032)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.36385525505136235 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41219619, + "stop": 41276119, + "innerStart": 41219619, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000462194", + "referenceAssertions": [ + { + "rcv": "RCV000525720", + "title": "NC_000017.11:g.(?_43067602)_(43124102_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.35830426786733466 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41219625, + "stop": 41276114, + "innerStart": 41219625, + "outerStart": 41276114, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000216100", + "referenceAssertions": [ + { + "rcv": "RCV000199768", + "title": "NM_007294.3(BRCA1):c.(?_-1)_5074+?del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.35825950189942857 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196312, + "stop": 41251897, + "innerStart": 41196312, + "outerStart": 41251897, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000417601", + "referenceAssertions": [ + { + "rcv": "RCV000459584", + "title": "NC_000017.11:g.(?_43044295)_(43099880_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.35455908148620635 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196353, + "stop": 41251921, + "innerStart": 41196353, + "outerStart": 41251921, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000832385", + "referenceAssertions": [ + { + "rcv": "RCV001032874", + "title": "NC_000017.11:g.(?_43044336)_(43099904_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.35448908508656657 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41214475, + "stop": 41293060, + "innerStart": 41214475, + "outerStart": 41293060, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000154110", + "referenceAssertions": [ + { + "rcv": "RCV000142247", + "title": "GRCh38/hg38 17q21.31(chr17:43062458-43141043)x1 AND See cases", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED" + } + ] + }, + "overlap": 0.3505826727854262 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41222925, + "stop": 41277500, + "innerStart": 41222925, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000666230", + "referenceAssertions": [ + { + "rcv": "RCV000824673", + "title": "NC_000017.11:g.(?_43070908)_(43125483_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.35037396077424326 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41222925, + "stop": 41277500, + "innerStart": 41222925, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV002425719", + "referenceAssertions": [ + { + "rcv": "RCV003109643", + "title": "NC_000017.10:g.(?_41222925)_(41277500_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.35037396077424326 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197637, + "stop": 41251921, + "innerStart": 41197637, + "outerStart": 41251921, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001073299", + "referenceAssertions": [ + { + "rcv": "RCV001386261", + "title": "NC_000017.10:g.(?_41197637)_(41251921_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3491580585821423 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197675, + "stop": 41251917, + "innerStart": 41197675, + "outerStart": 41251917, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000831128", + "referenceAssertions": [ + { + "rcv": "RCV001031712", + "title": "NC_000017.11:g.(?_43045658)_(43099900_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3489821915693036 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197695, + "stop": 41251917, + "innerStart": 41197695, + "outerStart": 41251917, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV002425741", + "referenceAssertions": [ + { + "rcv": "RCV003109665", + "title": "NC_000017.10:g.(?_41197695)_(41251917_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.34889841196304017 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197694, + "stop": 41251898, + "innerStart": 41197694, + "outerStart": 41251898, + "outerStop": 41256138, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373884", + "referenceAssertions": [ + { + "rcv": "RCV000413279", + "title": "NG_005905.2:g.(113863_118103)_(172307_?)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3488229918787083 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196353, + "stop": 41249326, + "innerStart": 41196353, + "outerStart": 41249326, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001460091", + "referenceAssertions": [ + { + "rcv": "RCV001951420", + "title": "NC_000017.10:g.(?_41196353)_(41249326_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.34362330779759087 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41199654, + "stop": 41251903, + "innerStart": 41199654, + "outerStart": 41251903, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000462172", + "referenceAssertions": [ + { + "rcv": "RCV000560350", + "title": "NC_000017.11:g.(?_43047637)_(43099886_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.34052620259516814 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197675, + "stop": 41249326, + "innerStart": 41197675, + "outerStart": 41249326, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000831915", + "referenceAssertions": [ + { + "rcv": "RCV001032439", + "title": "NC_000017.11:g.(?_43045658)_(43097309_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.33794596999496207 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41226328, + "stop": 41277500, + "innerStart": 41226328, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV001411671", + "referenceAssertions": [ + { + "rcv": "RCV001918878", + "title": "NC_000017.10:g.(?_41226328)_(41277500_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3358645856578412 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41226328, + "stop": 41277500, + "innerStart": 41226328, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV002425711", + "referenceAssertions": [ + { + "rcv": "RCV003109635", + "title": "NC_000017.10:g.(?_41226328)_(41277500_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3358645856578412 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41105913, + "stop": 41307101, + "innerStart": 41105913, + "outerStart": 41307101, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV001809350", + "referenceAssertions": [ + { + "rcv": "RCV002475723", + "title": "GRCh37/hg19 17q21.31(chr17:41105913-41307101)x3 AND not provided", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.334644054792346 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41228485, + "stop": 41277500, + "innerStart": 41228485, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001456291", + "referenceAssertions": [ + { + "rcv": "RCV001972350", + "title": "NC_000017.10:g.(?_41228485)_(41277500_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3263273526180886 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41228504, + "stop": 41277500, + "innerStart": 41228504, + "innerStop": 41226539, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373874", + "referenceAssertions": [ + { + "rcv": "RCV000414409", + "title": "NG_005905.2:g.(?_92501)_(141497_143462)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3262421264298936 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41228505, + "stop": 41277500, + "innerStart": 41228505, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000089068", + "referenceAssertions": [ + { + "rcv": "RCV000074603", + "title": "NM_007294.3(BRCA1):c.?-232_4484+?del AND Familial cancer of breast", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.32623764024369944 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41222925, + "stop": 41267816, + "innerStart": 41222925, + "outerStart": 41267816, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001069353", + "referenceAssertions": [ + { + "rcv": "RCV001381174", + "title": "NC_000017.10:g.(?_41222925)_(41267816_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.3073089587283767 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41222944, + "stop": 41267797, + "innerStart": 41222944, + "innerStop": 41219713, + "outerStart": 41267797, + "outerStop": 41276033, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000440439", + "referenceAssertions": [ + { + "rcv": "RCV000507595", + "title": "NC_000017.10:g.(41219713_41222944)_(41267797_41276033)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.30712872236259187 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41222945, + "stop": 41267796, + "innerStart": 41222945, + "outerStart": 41267796, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000254043", + "referenceAssertions": [ + { + "rcv": "RCV000240092", + "title": "NM_007294.3(BRCA1):c.81-?_4986+?del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + }, + { + "rcv": "RCV000258447", + "title": "NM_007294.3(BRCA1):c.81-?_4986+?del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.30711923363986826 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215238, + "stop": 41258921, + "innerStart": 41215238, + "outerStart": 41258921, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001071391", + "referenceAssertions": [ + { + "rcv": "RCV001383843", + "title": "NC_000017.10:g.(?_41215238)_(41258921_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.30153306689307185 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234401, + "stop": 41277500, + "innerStart": 41234401, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001072983", + "referenceAssertions": [ + { + "rcv": "RCV001385835", + "title": "NC_000017.10:g.(?_41234401)_(41277500_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.29870606906971425 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234420, + "stop": 41277500, + "innerStart": 41234420, + "innerStop": 41176312, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373863", + "referenceAssertions": [ + { + "rcv": "RCV000412827", + "title": "NG_005905.2:g.(?_92501)_(135581_1441370)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2986137104041034 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234420, + "stop": 41277500, + "innerStart": 41234420, + "innerStop": 41176312, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373888", + "referenceAssertions": [ + { + "rcv": "RCV000414278", + "title": "NG_005905.2:g.(?_92501)_(135581_1441370)del(;)(147057_150288)_(160933_166866)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + }, + { + "rcv": "RCV000414278", + "title": "NG_005905.2:g.(?_92501)_(135581_1441370)del(;)(147057_150288)_(160933_166866)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2986137104041034 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234421, + "stop": 41276132, + "innerStart": 41234421, + "outerStart": 41276132, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000417596", + "referenceAssertions": [ + { + "rcv": "RCV000466173", + "title": "NC_000017.11:g.(?_43082404)_(43124115_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2918943884227542 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234415, + "stop": 41276119, + "innerStart": 41234415, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001075232", + "referenceAssertions": [ + { + "rcv": "RCV001388758", + "title": "NC_000017.10:g.(?_41234415)_(41276119_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2918597001973491 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234420, + "stop": 41276114, + "innerStart": 41234420, + "innerStop": 41228632, + "outerStart": 41276114, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000440442", + "referenceAssertions": [ + { + "rcv": "RCV000508183", + "title": "NC_000017.10:g.(41228632_41234420)_(41276114_?)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2918101396937376 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41226328, + "stop": 41267816, + "innerStart": 41226328, + "outerStart": 41267816, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000640454", + "referenceAssertions": [ + { + "rcv": "RCV000793483", + "title": "NC_000017.11:g.(?_43074311)_(43115799_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.29078764771022864 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41226342, + "stop": 41267802, + "innerStart": 41226342, + "outerStart": 41267802, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000531551", + "referenceAssertions": [ + { + "rcv": "RCV000638022", + "title": "NC_000017.11:g.(?_43074325)_(43115785_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2906484402383456 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41226347, + "stop": 41267797, + "innerStart": 41226347, + "innerStop": 41223256, + "outerStart": 41267797, + "outerStop": 41276033, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000981968", + "referenceAssertions": [ + { + "rcv": "RCV001261458", + "title": "NC_000017.11:g.(43071239_43074330)_(43115780_43124016)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2905987100392597 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197637, + "stop": 41234612, + "innerStart": 41197637, + "outerStart": 41234612, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV002425712", + "referenceAssertions": [ + { + "rcv": "RCV003109636", + "title": "NC_000017.10:g.(?_41197637)_(41234612_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2676220461042956 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41242941, + "stop": 41277500, + "innerStart": 41242941, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000583429", + "referenceAssertions": [ + { + "rcv": "RCV000707755", + "title": "NC_000017.11:g.(?_43090924)_(43125483_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.25458751077356 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41242941, + "stop": 41277500, + "innerStart": 41242941, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000639367", + "referenceAssertions": [ + { + "rcv": "RCV000792144", + "title": "NC_000017.10:g.(?_41242941)_(41277500_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.25458751077356 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41242960, + "stop": 41277500, + "innerStart": 41242960, + "innerStop": 41234593, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373887", + "referenceAssertions": [ + { + "rcv": "RCV000413662", + "title": "NG_005905.2:g.(?_92501)_(127041_135408)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2544831651071981 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41243432, + "stop": 41277500, + "innerStart": 41243432, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000831092", + "referenceAssertions": [ + { + "rcv": "RCV001031679", + "title": "NC_000017.11:g.(?_43091415)_(43125483_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2518815892590457 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41243451, + "stop": 41277500, + "innerStart": 41243451, + "innerStop": 41243050, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373885", + "referenceAssertions": [ + { + "rcv": "RCV000414181", + "title": "NG_005905.2:g.(?_92501)_(126550_126951)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2517764845939411 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41201118, + "stop": 41234612, + "innerStart": 41201118, + "outerStart": 41234612, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000830417", + "referenceAssertions": [ + { + "rcv": "RCV001031053", + "title": "NC_000017.11:g.(?_43049101)_(43082595_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.24869323750408362 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215891, + "stop": 41249306, + "innerStart": 41215891, + "outerStart": 41249306, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000089069", + "referenceAssertions": [ + { + "rcv": "RCV000074604", + "title": "NM_007294.3(BRCA1):c.548-?_5193+?del AND Familial cancer of breast", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + }, + { + "rcv": "RCV000258494", + "title": "NM_007294.3(BRCA1):c.548-?_5193+?del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.24825229374837487 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41242961, + "stop": 41276132, + "innerStart": 41242961, + "outerStart": 41276132, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000254034", + "referenceAssertions": [ + { + "rcv": "RCV000240022", + "title": "NM_007294.3(BRCA1):c.-19-?_4185+?del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.24688711754154852 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41242955, + "stop": 41276119, + "innerStart": 41242955, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV001020506", + "referenceAssertions": [ + { + "rcv": "RCV001320091", + "title": "NC_000017.10:g.(?_41242955)_(41276119_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.24684787948256098 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41242955, + "stop": 41276119, + "innerStart": 41242955, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001075231", + "referenceAssertions": [ + { + "rcv": "RCV001388757", + "title": "NC_000017.10:g.(?_41242955)_(41276119_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.24684787948256098 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41226354, + "stop": 41259367, + "innerStart": 41226354, + "outerStart": 41259367, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000980718", + "referenceAssertions": [ + { + "rcv": "RCV001259894", + "title": "GRCh37/hg19 17q21.31(chr17:41226354-41259367)x1 AND not provided", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED" + } + ] + }, + "overlap": 0.24600046198669182 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41243446, + "stop": 41276119, + "innerStart": 41243446, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000531559", + "referenceAssertions": [ + { + "rcv": "RCV000638025", + "title": "NC_000017.10:g.(?_41243446)_(41276119_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2440853708642418 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41219605, + "stop": 41251921, + "innerStart": 41219605, + "outerStart": 41251921, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001456305", + "referenceAssertions": [ + { + "rcv": "RCV001972353", + "title": "NC_000017.10:g.(?_41219605)_(41251921_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.24206402708492503 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41226328, + "stop": 41258570, + "innerStart": 41226328, + "outerStart": 41258570, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001071390", + "referenceAssertions": [ + { + "rcv": "RCV001383842", + "title": "NC_000017.10:g.(?_41226328)_(41258570_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.24164368367408118 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41226347, + "stop": 41258551, + "innerStart": 41226347, + "innerStop": 41223256, + "outerStart": 41258551, + "outerStop": 41267742, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV002504040", + "referenceAssertions": [ + { + "rcv": "RCV003231031", + "title": "NC_000017.10:g.(41223256_41226347)_(41258551_41267742)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_LIKELY_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.24142765041905934 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41199581, + "stop": 41231493, + "innerStart": 41199581, + "innerStop": 41197867, + "outerStart": 41231493, + "outerStop": 41234371, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV002580336", + "referenceAssertions": [ + { + "rcv": "RCV003329541", + "title": "GRCh37/hg19 17q21.31(chr17:41199581-41231493)x4 AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_LIKELY_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.23976348965455063 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41228485, + "stop": 41258570, + "innerStart": 41228485, + "outerStart": 41258570, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001066374", + "referenceAssertions": [ + { + "rcv": "RCV001377353", + "title": "NC_000017.10:g.(?_41228485)_(41258570_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2291830127594744 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41219605, + "stop": 41249326, + "innerStart": 41219605, + "outerStart": 41249326, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV001064247", + "referenceAssertions": [ + { + "rcv": "RCV001374194", + "title": "NC_000017.10:g.(?_41219605)_(41249326_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.22703974455928072 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41247843, + "stop": 41277500, + "innerStart": 41247843, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000639365", + "referenceAssertions": [ + { + "rcv": "RCV000792142", + "title": "NC_000017.10:g.(?_41247843)_(41277500_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.2266616735576666 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41247857, + "stop": 41276119, + "innerStart": 41247857, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000531587", + "referenceAssertions": [ + { + "rcv": "RCV000638034", + "title": "NC_000017.10:g.(?_41247857)_(41276119_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.218328028921917 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41249241, + "stop": 41277500, + "innerStart": 41249241, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000583987", + "referenceAssertions": [ + { + "rcv": "RCV000708208", + "title": "NC_000017.10:g.(?_41249241)_(41277500_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.21830991355669027 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41221355, + "stop": 41380248, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001713241", + "referenceAssertions": [ + { + "rcv": "RCV003156036", + "title": "NC_000017.10:g.41221355_41380248del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED" + } + ] + }, + "overlap": 0.21587723918902813 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196977, + "stop": 41223340, + "innerStart": 41196977, + "outerStart": 41223340, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000830606", + "referenceAssertions": [ + { + "rcv": "RCV001031225", + "title": "NC_000017.11:g.(?_43044960)_(43071323_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.20669055216263044 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41251772, + "stop": 41277500, + "innerStart": 41251772, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000657388", + "referenceAssertions": [ + { + "rcv": "RCV000813980", + "title": "NC_000017.10:g.(?_41251772)_(41277500_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.20272144219102098 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41251772, + "stop": 41277500, + "innerStart": 41251772, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000832729", + "referenceAssertions": [ + { + "rcv": "RCV001033202", + "title": "NC_000017.11:g.(?_43099755)_(43125483_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.20272144219102098 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41242941, + "stop": 41267816, + "innerStart": 41242941, + "outerStart": 41267816, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000831869", + "referenceAssertions": [ + { + "rcv": "RCV001032396", + "title": "NC_000017.11:g.(?_43090924)_(43115799_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_LIKELY_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.19732677586959108 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41242941, + "stop": 41267816, + "innerStart": 41242941, + "outerStart": 41267816, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001069352", + "referenceAssertions": [ + { + "rcv": "RCV001381173", + "title": "NC_000017.10:g.(?_41242941)_(41267816_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.19732677586959108 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41251786, + "stop": 41276119, + "innerStart": 41251786, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000531547", + "referenceAssertions": [ + { + "rcv": "RCV000638019", + "title": "NC_000017.11:g.(?_43099769)_(43124102_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.19386088605275528 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234401, + "stop": 41258570, + "innerStart": 41234401, + "outerStart": 41258570, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000583731", + "referenceAssertions": [ + { + "rcv": "RCV000708002", + "title": "NC_000017.10:g.(?_41234401)_(41258570_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_LIKELY_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.19280626042007354 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234415, + "stop": 41258556, + "innerStart": 41234415, + "outerStart": 41258556, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000531594", + "referenceAssertions": [ + { + "rcv": "RCV000638038", + "title": "NC_000017.10:g.(?_41234415)_(41258556_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_LIKELY_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.19262592654650484 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41230031, + "stop": 41253797, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001713244", + "referenceAssertions": [ + { + "rcv": "RCV003156039", + "title": "NC_000017.10:g.41230031_41253797del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED" + } + ] + }, + "overlap": 0.1902029514389065 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41204256, + "stop": 41227656, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373847", + "referenceAssertions": [ + { + "rcv": "RCV000413482", + "title": "Single allele AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.18782406292639858 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196353, + "stop": 41219732, + "innerStart": 41196353, + "outerStart": 41219732, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV002425721", + "referenceAssertions": [ + { + "rcv": "RCV003109645", + "title": "NC_000017.10:g.(?_41196353)_(41219732_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.1876871452769148 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197675, + "stop": 41219732, + "innerStart": 41197675, + "outerStart": 41219732, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000832145", + "referenceAssertions": [ + { + "rcv": "RCV001032660", + "title": "NC_000017.11:g.(?_43045658)_(43067715_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.1789739303999286 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197694, + "stop": 41219713, + "innerStart": 41197694, + "outerStart": 41219713, + "outerStop": 41222944, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373866", + "referenceAssertions": [ + { + "rcv": "RCV000412943", + "title": "NG_005905.2:g.(147057_150288)_(172307_?)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.17872071033771883 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41256119, + "stop": 41277500, + "innerStart": 41256119, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000652955", + "referenceAssertions": [ + { + "rcv": "RCV000808631", + "title": "NC_000017.10:g.(?_41256119)_(41277500_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.17444583139568087 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41256119, + "stop": 41277500, + "innerStart": 41256119, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000662865", + "referenceAssertions": [ + { + "rcv": "RCV000820605", + "title": "NC_000017.11:g.(?_43104102)_(43125483_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.17444583139568087 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41256138, + "stop": 41277500, + "innerStart": 41256138, + "innerStop": 41251898, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373861", + "referenceAssertions": [ + { + "rcv": "RCV000413350", + "title": "NG_005905.2:g.(?_92501)_(113863_118103)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.17431784059011685 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41256138, + "stop": 41277501, + "innerStart": 41256138, + "innerStop": 41251898, + "outerStart": 41277501, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000981996", + "referenceAssertions": [ + { + "rcv": "RCV001261486", + "title": "NC_000017.11:g.(43099881_43104121)_(43125484_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.17431641820273677 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41256865, + "stop": 41277500, + "innerStart": 41256865, + "outerStart": 41277500, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001071180", + "referenceAssertions": [ + { + "rcv": "RCV001383563", + "title": "NC_000017.10:g.(?_41256865)_(41277500_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.16939051918735892 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41226328, + "stop": 41246897, + "innerStart": 41226328, + "outerStart": 41246897, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV002425732", + "referenceAssertions": [ + { + "rcv": "RCV003109656", + "title": "NC_000017.10:g.(?_41226328)_(41246897_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.16894028367512873 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41226342, + "stop": 41246883, + "innerStart": 41226342, + "outerStart": 41246883, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000462197", + "referenceAssertions": [ + { + "rcv": "RCV000540590", + "title": "NC_000017.11:g.(?_43074325)_(43094866_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.16874912717385054 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41256133, + "stop": 41276119, + "innerStart": 41256133, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000462207", + "referenceAssertions": [ + { + "rcv": "RCV000529340", + "title": "NC_000017.11:g.(?_43104116)_(43124102_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.16494190268700074 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41256133, + "stop": 41276119, + "innerStart": 41256133, + "outerStart": 41276119, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV001047334", + "referenceAssertions": [ + { + "rcv": "RCV001352030", + "title": "NC_000017.10:g.(?_41256133)_(41276119_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.16494190268700074 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196353, + "stop": 41215988, + "innerStart": 41196353, + "outerStart": 41215988, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV002425715", + "referenceAssertions": [ + { + "rcv": "RCV003109639", + "title": "NC_000017.10:g.(?_41196353)_(41215988_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.1625160355886613 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41209048, + "stop": 41228651, + "innerStart": 41209048, + "outerStart": 41228651, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001073078", + "referenceAssertions": [ + { + "rcv": "RCV001385963", + "title": "NC_000017.10:g.(?_41209048)_(41228651_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.16229417267556895 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41209049, + "stop": 41228651, + "innerStart": 41209049, + "outerStart": 41228651, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV002425733", + "referenceAssertions": [ + { + "rcv": "RCV003109657", + "title": "NC_000017.10:g.(?_41209049)_(41228651_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.16228723756540167 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41209068, + "stop": 41228632, + "innerStart": 41209068, + "innerStop": 41203135, + "outerStart": 41228632, + "outerStop": 41234420, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000981984", + "referenceAssertions": [ + { + "rcv": "RCV001261474", + "title": "NC_000017.11:g.(43051118_43057051)_(43076615_43082403)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.16202361826523345 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41209069, + "stop": 41228631, + "innerStart": 41209069, + "outerStart": 41228631, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000089063", + "referenceAssertions": [ + { + "rcv": "RCV000119187", + "title": "NM_007294.3(BRCA1):c.4358-?_5277+?del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_MULTIPLE_SUBMITTERS_NO_CONFLICTS" + }, + { + "rcv": "RCV000074593", + "title": "NM_007294.3(BRCA1):c.4358-?_5277+?del AND Familial cancer of breast", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + }, + { + "rcv": "RCV000258402", + "title": "NM_007294.3(BRCA1):c.4358-?_5277+?del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.1620097389691268 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215330, + "stop": 41234612, + "innerStart": 41215330, + "outerStart": 41234612, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001073077", + "referenceAssertions": [ + { + "rcv": "RCV001385962", + "title": "NC_000017.10:g.(?_41215330)_(41234612_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.16006208911614317 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215350, + "stop": 41234592, + "innerStart": 41215350, + "outerStart": 41234592, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000216103", + "referenceAssertions": [ + { + "rcv": "RCV000200600", + "title": "NM_007294.3(BRCA1):c.4186-?_5193+?del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_MULTIPLE_SUBMITTERS_NO_CONFLICTS" + }, + { + "rcv": "RCV000258431", + "title": "NM_007294.3(BRCA1):c.4186-?_5193+?del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.15978311412249235 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197694, + "stop": 41215969, + "innerStart": 41197694, + "outerStart": 41215969, + "outerStop": 41219711, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373862", + "referenceAssertions": [ + { + "rcv": "RCV000413996", + "title": "NG_005905.2:g.(150290_154032)_(172307_?)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.15298204495040388 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234401, + "stop": 41251921, + "innerStart": 41234401, + "outerStart": 41251921, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001073298", + "referenceAssertions": [ + { + "rcv": "RCV001386260", + "title": "NC_000017.10:g.(?_41234401)_(41251921_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.14759497936146912 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41209048, + "stop": 41226558, + "innerStart": 41209048, + "outerStart": 41226558, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV002425734", + "referenceAssertions": [ + { + "rcv": "RCV003109658", + "title": "NC_000017.10:g.(?_41209048)_(41226558_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.14752316764953666 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41209049, + "stop": 41226558, + "innerStart": 41209049, + "outerStart": 41226558, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000831969", + "referenceAssertions": [ + { + "rcv": "RCV001032492", + "title": "NC_000017.11:g.(?_43057032)_(43074541_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.14751598581285436 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41209063, + "stop": 41226544, + "innerStart": 41209063, + "outerStart": 41226544, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000531567", + "referenceAssertions": [ + { + "rcv": "RCV000638030", + "title": "NC_000017.11:g.(?_43057046)_(43074527_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.14731484524441524 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234420, + "stop": 41251898, + "innerStart": 41234420, + "innerStop": 41228632, + "outerStart": 41251898, + "outerStop": 41256138, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000440441", + "referenceAssertions": [ + { + "rcv": "RCV000507105", + "title": "NC_000017.10:g.(41228632_41234420)_(41251898_41256138)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.14729328883945125 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234421, + "stop": 41251897, + "innerStart": 41234421, + "outerStart": 41251897, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000254055", + "referenceAssertions": [ + { + "rcv": "RCV000240375", + "title": "NM_007294.3(BRCA1):c.442-?_4357+?del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + }, + { + "rcv": "RCV000258269", + "title": "NM_007294.3(BRCA1):c.442-?_4357+?del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.14727891729728818 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41213892, + "stop": 41554856, + "innerStart": 41213892, + "outerStart": 41554856, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000442490", + "referenceAssertions": [ + { + "rcv": "RCV000510804", + "title": "GRCh37/hg19 17q21.31(chr17:41213892-41554856)x3 AND See cases", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_NO_ASSERTION_CRITERIA_PROVIDED" + } + ] + }, + "overlap": 0.143861640966722 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41251742, + "stop": 41267846, + "innerStart": 41251742, + "innerStop": 41249356, + "outerStart": 41267846, + "outerStop": 41275984, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV002580305", + "referenceAssertions": [ + { + "rcv": "RCV003329509", + "title": "GRCh37/hg19 17q21.31(chr17:41251742-41267846)x3 AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_LIKELY_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.13730455095742322 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41251772, + "stop": 41267816, + "innerStart": 41251772, + "outerStart": 41267816, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000660155", + "referenceAssertions": [ + { + "rcv": "RCV000817286", + "title": "NC_000017.10:g.(?_41251772)_(41267816_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_LIKELY_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.13686302608458298 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41251772, + "stop": 41267816, + "innerStart": 41251772, + "outerStart": 41267816, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000660701", + "referenceAssertions": [ + { + "rcv": "RCV000817952", + "title": "NC_000017.11:g.(?_43099755)_(43115799_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.13686302608458298 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41242941, + "stop": 41258570, + "innerStart": 41242941, + "outerStart": 41258570, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000583942", + "referenceAssertions": [ + { + "rcv": "RCV000708175", + "title": "NC_000017.11:g.(?_43090924)_(43106553_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.13379672827194206 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41242955, + "stop": 41258556, + "innerStart": 41242955, + "outerStart": 41258556, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000462203", + "referenceAssertions": [ + { + "rcv": "RCV000555453", + "title": "NC_000017.11:g.(?_43090938)_(43106539_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.13358906080091787 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41234401, + "stop": 41249326, + "innerStart": 41234401, + "outerStart": 41249326, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001066580", + "referenceAssertions": [ + { + "rcv": "RCV001377606", + "title": "NC_000017.10:g.(?_41234401)_(41249326_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.1285449769624941 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215330, + "stop": 41228651, + "innerStart": 41215330, + "outerStart": 41228651, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001456294", + "referenceAssertions": [ + { + "rcv": "RCV001972351", + "title": "NC_000017.10:g.(?_41215330)_(41228651_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.11633816838556994 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41215349, + "stop": 41228632, + "innerStart": 41215349, + "innerStop": 41209153, + "outerStart": 41228632, + "outerStop": 41234420, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV001804790", + "referenceAssertions": [ + { + "rcv": "RCV002470087", + "title": "NC_000017.10:g.(41209153_41215349)_(41228632_41234420)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_LIKELY_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.1160448315323264 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196312, + "stop": 41209152, + "innerStart": 41196312, + "outerStart": 41209152, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000417594", + "referenceAssertions": [ + { + "rcv": "RCV000464218", + "title": "NC_000017.11:g.(?_43044295)_(43057135_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.1126107164781198 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41235798, + "stop": 41248470, + "innerStart": 41235798, + "outerStart": 41248470, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001526578", + "referenceAssertions": [ + { + "rcv": "RCV002052597", + "title": "GRCh37/hg19 17q21.31(chr17:41235798-41248470) AND not specified", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.11130139994027859 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41196977, + "stop": 41209172, + "innerStart": 41196977, + "outerStart": 41209172, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV002425737", + "referenceAssertions": [ + { + "rcv": "RCV003109661", + "title": "NC_000017.10:g.(?_41196977)_(41209172_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.1075627287560083 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41256119, + "stop": 41267816, + "innerStart": 41256119, + "outerStart": 41267816, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000659613", + "referenceAssertions": [ + { + "rcv": "RCV000816641", + "title": "NC_000017.11:g.(?_43104102)_(43115799_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.10362574964344876 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41256119, + "stop": 41267816, + "innerStart": 41256119, + "outerStart": 41267816, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV001517673", + "referenceAssertions": [ + { + "rcv": "RCV002027529", + "title": "NC_000017.10:g.(?_41256119)_(41267816_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_LIKELY_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.10362574964344876 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41256133, + "stop": 41267802, + "innerStart": 41256133, + "outerStart": 41267802, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000584025", + "referenceAssertions": [ + { + "rcv": "RCV000708238", + "title": "NC_000017.11:g.(?_43104116)_(43115785_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.10340336171683251 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41222945, + "stop": 41234592, + "innerStart": 41222945, + "outerStart": 41234592, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000089062", + "referenceAssertions": [ + { + "rcv": "RCV000074591", + "title": "NM_007294.3(BRCA1):c.4186-?_4986+?del AND Familial cancer of breast", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.10322855091858167 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41223008, + "stop": 41234592, + "innerStart": 41223008, + "outerStart": 41234592, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000431354", + "referenceAssertions": [ + { + "rcv": "RCV000496841", + "title": "NC_000017.11:g.(?_43070991)_(43082575_?)del AND not specified", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.10272757905190913 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197675, + "stop": 41209172, + "innerStart": 41197675, + "outerStart": 41209172, + "variantType": "VARIANT_TYPE_DUPLICATION", + "vcv": "VCV000652385", + "referenceAssertions": [ + { + "rcv": "RCV000807923", + "title": "NC_000017.10:g.(?_41197675)_(41209172_?)dup AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_UNCERTAIN_SIGNIFICANCE", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.10203483986617799 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197689, + "stop": 41209158, + "innerStart": 41197689, + "outerStart": 41209158, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV001069180", + "referenceAssertions": [ + { + "rcv": "RCV001380934", + "title": "NC_000017.10:g.(?_41197689)_(41209158_?)del AND Hereditary breast ovarian cancer syndrome", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.10181166174029593 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41197694, + "stop": 41209153, + "innerStart": 41197694, + "outerStart": 41209153, + "outerStop": 41215349, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373868", + "referenceAssertions": [ + { + "rcv": "RCV000414458", + "title": "NG_005905.2:g.(154652_160848)_(172307_?)del AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_MULTIPLE_SUBMITTERS_NO_CONFLICTS" + } + ] + }, + "overlap": 0.10173192837930208 + }, + { + "record": { + "release": "GRCh37", + "chromosome": "17", + "start": 41200602, + "stop": 41211992, + "variantType": "VARIANT_TYPE_DELETION", + "vcv": "VCV000373833", + "referenceAssertions": [ + { + "rcv": "RCV000413848", + "title": "Single allele AND Breast-ovarian cancer, familial, susceptibility to, 1", + "clinicalSignificance": "CLINICAL_SIGNIFICANCE_PATHOGENIC", + "reviewStatus": "REVIEW_STATUS_CRITERIA_PROVIDED_SINGLE_SUBMITTER" + } + ] + }, + "overlap": 0.10118138212826434 + } +] diff --git a/src/store/strucvarInfo/fixture.responseCsqDel.BRCA1.json b/src/store/strucvarInfo/fixture.responseCsqDel.BRCA1.json new file mode 100644 index 0000000..975a42a --- /dev/null +++ b/src/store/strucvarInfo/fixture.responseCsqDel.BRCA1.json @@ -0,0 +1,36 @@ +{ + "version": { "tx_db": "0.21.0", "mehari": "0.21.1" }, + "query": { + "genome_release": "grch37", + "chromosome": "17", + "start": 41176312, + "stop": 41277500, + "sv_type": "DEL" + }, + "result": [ + { "hgnc_id": "HGNC:16919", "transcript_effects": ["upstream_variant"] }, + { + "hgnc_id": "HGNC:1100", + "transcript_effects": [ + "transcript_variant", + "exon_variant", + "splice_region_variant", + "intron_variant", + "upstream_variant", + "downstream_variant" + ] + }, + { "hgnc_id": "HGNC:20691", "transcript_effects": ["upstream_variant"] }, + { + "hgnc_id": "HGNC:18315", + "transcript_effects": [ + "transcript_variant", + "exon_variant", + "splice_region_variant", + "intron_variant", + "upstream_variant", + "downstream_variant" + ] + } + ] +} diff --git a/src/store/strucvarInfo/index.ts b/src/store/strucvarInfo/index.ts new file mode 100644 index 0000000..16c8633 --- /dev/null +++ b/src/store/strucvarInfo/index.ts @@ -0,0 +1 @@ +export * from './store' diff --git a/src/store/strucvarInfo/store.spec.ts b/src/store/strucvarInfo/store.spec.ts new file mode 100644 index 0000000..b061270 --- /dev/null +++ b/src/store/strucvarInfo/store.spec.ts @@ -0,0 +1,135 @@ +import fs from 'fs' +import path from 'path' +import { createPinia, setActivePinia } from 'pinia' +import { beforeEach, describe, expect, it, vi } from 'vitest' +import createFetchMock from 'vitest-fetch-mock' + +import type { Strucvar } from '../../lib/genomicVars' +import { StoreState } from '../../store' +import { useStrucvarInfoStore } from './store' + +/** Fixtures loaded from JSON files. */ +const geneInfoBrca1Json = JSON.parse( + fs.readFileSync( + path.resolve(__dirname, '../../components/GenePathogenicityCard/fixture.geneInfo.BRCA1.json'), + 'utf8' + ) +) +const responseClinvarSvRecordsBrca1 = JSON.parse( + fs.readFileSync( + path.resolve( + __dirname, + '../../components/StrucvarClinvarCard/fixture.clinvarSvRecords.BRCA1.json' + ), + 'utf8' + ) +) +const responseCsqDelBrca1Json = JSON.parse( + fs.readFileSync(path.resolve(__dirname, './fixture.responseCsqDel.BRCA1.json'), 'utf8') +) + +/** Initialize mock for `fetch()`. */ +const fetchMocker = createFetchMock(vi) + +/** Example Structure Variant */ +const strucvarInfo: Strucvar = { + genomeBuild: 'grch37', + svType: 'DEL', + chrom: '17', + start: 41176312, + stop: 41277500, + userRepr: 'DEL-grch37-17-41176312-41277500' +} + +describe('svInfo store', () => { + beforeEach(() => { + setActivePinia(createPinia()) + fetchMocker.enableMocks() + fetchMocker.resetMocks() + }) + + it('should have initial state', () => { + // arrange: + const store = useStrucvarInfoStore() + + // act: nothing to do + + // assert: + expect(store.storeState).toBe(StoreState.Initial) + expect(store.strucvar).toBe(undefined) + expect(store.genesInfos).toStrictEqual(undefined) + }) + + it('should clear state', () => { + // arrange: + const store = useStrucvarInfoStore() + store.storeState = StoreState.Active + store.strucvar = structuredClone(strucvarInfo) + store.genesInfos = [structuredClone(geneInfoBrca1Json)] + + // act: + store.clearData() + + // assert: + expect(store.storeState).toBe(StoreState.Initial) + expect(store.strucvar).toBe(undefined) + expect(store.genesInfos).toStrictEqual(undefined) + }) + + it('should load data', async () => { + // arrange: + fetchMocker.mockResponse((req) => { + const mehariCsqUrl = + '/internal/proxy/mehari/strucvars/csq?genome_release=grch37&' + + 'chromosome=17&start=41176312&stop=41277500&sv_type=DEL' + const annonarsClinvarUrl = + '/internal/proxy/annonars/clinvar-sv/query?genomeRelease=grch37&' + + 'chromosome=17&start=41176312&stop=41277500&pageSize=1000&minOverlap=0.1' + const annonarsGeneInfoUrl = + '/internal/proxy/annonars/genes/info?hgnc_id=' + + 'HGNC:16919,HGNC:1100,HGNC:20691,HGNC:18315' + switch (req.url) { + case mehariCsqUrl: + return Promise.resolve(JSON.stringify(responseCsqDelBrca1Json)) + case annonarsClinvarUrl: + return Promise.resolve(JSON.stringify(responseClinvarSvRecordsBrca1)) + case annonarsGeneInfoUrl: + return Promise.resolve(JSON.stringify({ genes: { 'HGNC:1100': geneInfoBrca1Json } })) + default: + return Promise.reject(new Error(`Unexpected URL: ${req.url}`)) + } + }) + const store = useStrucvarInfoStore() + + // act: + await store.loadData(structuredClone(strucvarInfo)) + + // assert: + expect(store.storeState).toBe(StoreState.Active) + expect(store.strucvar).toStrictEqual(strucvarInfo) + expect(store.genesInfos).toStrictEqual([geneInfoBrca1Json]) + }) + + it('should correctly handle errors', async () => { + // arrange: + // Disable console.error + const spy = vi.spyOn(console, 'error') + spy.mockImplementation(() => {}) + fetchMocker.mockResponse((req) => { + if (req.url.includes('csq')) { + return Promise.resolve(JSON.stringify({ status: 400 })) + } else { + return Promise.resolve(JSON.stringify({ status: 400 })) + } + }) + const store = useStrucvarInfoStore() + + // act: + await store.loadData(structuredClone(strucvarInfo)) + + // assert: + expect(store.storeState).toBe(StoreState.Error) + expect(store.strucvar).toBe(undefined) + expect(store.genesInfos).toStrictEqual(undefined) + }) +}) diff --git a/src/store/strucvarInfo/store.ts b/src/store/strucvarInfo/store.ts new file mode 100644 index 0000000..01a4b90 --- /dev/null +++ b/src/store/strucvarInfo/store.ts @@ -0,0 +1,109 @@ +/** + * Store for variant details. + * + * This includes the data retrieved from the APIs. + */ +import equal from 'fast-deep-equal' +import { defineStore } from 'pinia' +import { ref } from 'vue' + +import { AnnonarsClient } from '../../api/annonars' +import { MehariClient } from '../../api/mehari' +import { type Strucvar } from '../../lib/genomicVars' +import { StoreState } from '../../store' + +/** `ClinvarSvRecord` is a type alias for easier future interface definition. */ +export type ClinvarSvRecord = any | null +/** `GeneInfo` is a type alias for easier future interface definition. */ +export type GeneInfo = any | null +/** `Consequence` is a type alias for future interface definition. */ +export type Consequence = any | null + +export const useStrucvarInfoStore = defineStore('strucvarInfo', () => { + /** The current store state. */ + const storeState = ref(StoreState.Initial) + + /** The current SV record. */ + const strucvar = ref(undefined) + + /** The consequences of the `currentStrucvar` */ + const csq = ref(undefined) + + /** Infos on the variants of the record. */ + const genesInfos = ref(undefined) + + /** The ClinVar SV records. */ + const clinvarSvRecords = ref(undefined) + + function clearData() { + storeState.value = StoreState.Initial + csq.value = undefined + strucvar.value = undefined + genesInfos.value = undefined + } + + /** + * Load data from the server. + * + * @param strucvar$ The structural variant to use for the query. + * @param forceReload Whether to force-reload in case the variant is the same. + */ + const loadData = async (strucvar$: Strucvar, forceReload: boolean = false) => { + // Protect against loading multiple times. + if ( + !forceReload && + storeState.value !== StoreState.Initial && + equal(strucvar$, strucvar.value) + ) { + return + } + + // Clear old store contents + clearData() + + // Load data via API + storeState.value = StoreState.Loading + const annonarsClient = new AnnonarsClient() + const mehariClient = new MehariClient() + try { + // Fetch SV record + const mehariResult = await mehariClient.retrieveStrucvarsCsq(strucvar$) + // Fetch ClinVar SV records + const { records: responseRecords } = await annonarsClient.fetchClinvarStrucvars(strucvar$) + clinvarSvRecords.value = responseRecords ?? [] + + // Fetch gene infos + const hgncIds = [] + for (const txEffect of mehariResult.result) { + if (txEffect.hgncId) { + hgncIds.push(txEffect.hgncId) + } + } + if (hgncIds.length) { + genesInfos.value = await annonarsClient.fetchGeneInfos(hgncIds) + } else { + genesInfos.value = [] + } + + // Sort by gene symbol + genesInfos.value!.sort((a, b) => (a?.hgnc?.agr ?? 'ZZZ').localeCompare(b?.hgnc?.agr ?? 'ZZZ')) + + csq.value = mehariResult.result + strucvar.value = strucvar$ + storeState.value = StoreState.Active + } catch (e) { + console.error('There was an error loading the SV data.', e) + storeState.value = StoreState.Error + } + } + + return { + storeState, + strucvar, + csq, + genesInfos, + clinvarSvRecords, + clearData, + loadData + } +})