{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA190946", "communityStandardTitle": [ "NM_000465.4(BARD1):c.298C>T (p.Gln100Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181843[alleleid]", "alleleId": 181843, "preferredName": "NM_000465.4(BARD1):c.298C>T (p.Gln100Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/185079", "RCV": [ "RCV000164438", "RCV000459220", "RCV002307421" ], "variationId": 185079 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.215657087G>A?assembly=hg19", "id": "chr2:g.215657087G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr2:g.214792363G>A?assembly=hg38", "id": "chr2:g.214792363G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/786201912", "rs": 786201912 } ], "gnomAD_2": [ { "@id": 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"ENSP00000480470.1:p.Gln81_Ser758delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS403362" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000619009.4:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000482293.1:p.Gln100Ter", "hgvsWellDefined": "ENSP00000482293.1:p.Gln100_Ser264delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerGlyValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404187" }, { "coordinates": [ { "allele": "T", "end": 371, "referenceAllele": "C", "start": 370 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "ENST00000620057.4:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000481988.1:p.Gln100Ter", "hgvsWellDefined": "ENSP00000481988.1:p.Gln100_Cys127delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerGlyArgHisThrPheCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS404652" }, { "@id": "http://reg.genome.network/allele/PA190947", "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_000465.3:c.298C>T" ], "proteinEffect": { "hgvs": "NP_000456.2:p.Gln100Ter", "hgvsWellDefined": "NP_000456.2:p.Gln100_Ser777delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006526" }, { "@id": "http://reg.genome.network/allele/PA916013127", "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "C", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282543.1:c.241C>T" ], "proteinEffect": { "hgvs": "NP_001269472.1:p.Gln81Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS022030" }, { "coordinates": [ { "allele": "T", "end": 357, "endIntronDirection": "+", "endIntronOffset": 4698, "referenceAllele": "C", "start": 357, "startIntronDirection": "+", "startIntronOffset": 4697 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282545.1:c.215+4698C>T" ], "proteinEffect": { "hgvs": "NP_001269474.1:n.215+4698C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022032" }, { "coordinates": [ { "allele": "T", "end": 300, "endIntronDirection": "+", "endIntronOffset": 17049, "referenceAllele": "C", "start": 300, "startIntronDirection": "+", "startIntronOffset": 17048 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282548.1:c.158+17049C>T" ], "proteinEffect": { "hgvs": "NP_001269477.1:n.158+17049C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS022035" }, { "@id": "http://reg.genome.network/allele/PA2826655377", "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282549.1:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001269478.1:p.Gln100Ter", "hgvsWellDefined": "NP_001269478.1:p.Gln100_Ser264delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerGlyValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022036" }, { "coordinates": [ { "allele": "T", "end": 357, "endIntronDirection": "+", "endIntronOffset": 4698, "referenceAllele": "C", "start": 357, "startIntronDirection": "+", "startIntronOffset": 4697 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104212.1:n.357+4698C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS053302" }, { "coordinates": [ { "allele": "T", "end": 300, "endIntronDirection": "-", "endIntronOffset": 10853, "referenceAllele": "C", "start": 300, "startIntronDirection": "-", "startIntronOffset": 10854 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104215.1:n.301-10854C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS053305" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104216.1:n.440C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS053306" }, { "coordinates": [ { "allele": "T", "end": 520, "referenceAllele": "C", "start": 519 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_011511567.1:c.244C>T" ], "proteinEffect": { "hgvs": "XP_011509869.1:p.Gln82Ter", "hgvsWellDefined": "XP_011509869.1:p.Gln82_Ser759delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078828" }, { "coordinates": [ { "allele": "T", "end": 440, "referenceAllele": "C", "start": 439 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_011511568.1:c.298C>T" ], "proteinEffect": { "hgvs": "XP_011509870.1:p.Gln100Ter", "hgvsWellDefined": "XP_011509870.1:p.Gln100_Ser642delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluCysTrpThrAlaValValGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS078829" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_017004613.1:c.397C>T" ], "proteinEffect": { "hgvs": "XP_016860102.1:p.Gln133Ter", "hgvsWellDefined": "XP_016860102.1:p.Gln133_Ser810delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560077" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XM_017004614.1:c.397C>T" ], "proteinEffect": { "hgvs": "XP_016860103.1:p.Gln133Ter", "hgvsWellDefined": "XP_016860103.1:p.Gln133_Ser675delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluCysTrpThrAlaValValGlnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS560078" }, { "coordinates": [ { "allele": "T", "end": 488, "referenceAllele": "C", "start": 487 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "XR_002959322.1:n.488C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS605255" }, { "@id": "http://reg.genome.network/allele/PA190947", "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_000465.4:c.298C>T" ], "proteinEffect": { "hgvs": "NP_000456.2:p.Gln100Ter", "hgvsWellDefined": "NP_000456.2:p.Gln100_Ser777delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662452", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000260947.9:c.298C>T" }, "RefSeq": { "hgvs": "NM_000465.4:c.298C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000260947.4:p.Gln100Ter" }, "RefSeq": { "hgvs": "NP_000456.2:p.Gln100Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA916013127", "coordinates": [ { "allele": "T", "end": 355, "referenceAllele": "C", "start": 354 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282543.2:c.241C>T" ], "proteinEffect": { "hgvs": "NP_001269472.1:p.Gln81Ter", "hgvsWellDefined": "NP_001269472.1:p.Gln81_Ser758delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerAspLeuLysGluAspLysProArgLysSerLeuPheAsnAspAlaGlyAsnLysLysAsnSerIleLysMetTrpPheSerProArgSerLysLysValArgTyrValValSerLysAlaSerValGlnThrGlnProAlaIleLysLysAspAlaSerAlaGlnGlnAspSerTyrGluPheValSerProSerProProAlaAspValSerGluArgAlaLysLysAlaSerAlaArgSerGlyLysLysGlnLysLysLysThrLeuAlaGluIleAsnGlnLysTrpAsnLeuGluAlaGluLysGluAspGlyGluPheAspSerLysGluGluSerLysGlnLysLeuValSerPheCysSerGlnProSerValIleSerSerProGlnIleAsnGlyGluIleAspLeuLeuAlaSerGlySerLeuThrGluSerGluCysPheGlySerLeuThrGluValSerLeuProLeuAlaGluGlnIleGluSerProAspThrLysSerArgAsnGluValValThrProGluLysValCysLysAsnTyrLeuThrSerLysLysSerLeuProLeuGluAsnAsnGlyLysArgGlyHisHisAsnArgLeuSerSerProIleSerLysArgCysArgThrSerIleLeuSerThrSerGlyAspPheValLysGlnThrValProSerGluAsnIleProLeuProGluCysSerSerProProSerCysLysArgLysValGlyGlyThrSerGlyArgLysAsnSerAsnMetSerAspGluPheIleSerLeuSerProGlyThrProProSerThrLeuSerSerSerSerTyrArgArgValMetSerSerProSerAlaMetLysLeuLeuProAsnMetAlaValLysArgAsnHisArgGlyGluThrLeuLeuHisIleAlaSerIleLysGlyAspIleProSerValGluTyrLeuLeuGlnAsnGlySerAspProAsnValLysAspHisAlaGlyTrpThrProLeuHisGluAlaCysAsnHisGlyHisLeuLysValValGluLeuLeuLeuGlnHisLysAlaLeuValAsnThrThrGlyTyrGlnAsnAspSerProLeuHisAspAlaAlaLysAsnGlyHisValAspIleValLysLeuLeuLeuSerTyrGlyAlaSerArgAsnAlaValAsnIlePheGlyLeuArgProValAspTyrThrAspAspGluSerMetLysSerLeuLeuLeuLeuProGluLysAsnGluSerSerSerAlaSerHisCysSerValMetAsnThrGlyGlnArgArgAspGlyProLeuValLeuIleGlySerGlyLeuSerSerGluGlnGlnLysMetLeuSerGluLeuAlaValIleLeuLysAlaLysLysTyrThrGluPheAspSerThrValThrHisValValValProGlyAspAlaValGlnSerThrLeuLysCysMetLeuGlyIleLeuAsnGlyCysTrpIleLeuLysPheGluTrpValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681812" }, { "coordinates": [ { "allele": "T", "end": 329, "endIntronDirection": "+", "endIntronOffset": 4698, "referenceAllele": "C", "start": 329, "startIntronDirection": "+", "startIntronOffset": 4697 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282545.2:c.215+4698C>T" ], "proteinEffect": { "hgvs": "NP_001269474.1:n.215+4698C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS681814" }, { "coordinates": [ { "allele": "T", "end": 272, "endIntronDirection": "+", "endIntronOffset": 17049, "referenceAllele": "C", "start": 272, "startIntronDirection": "+", "startIntronOffset": 17048 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282548.2:c.158+17049C>T" ], "proteinEffect": { "hgvs": "NP_001269477.1:n.158+17049C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS681817" }, { "@id": "http://reg.genome.network/allele/PA2826655377", "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NM_001282549.2:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001269478.1:p.Gln100Ter", "hgvsWellDefined": "NP_001269478.1:p.Gln100_Ser264delinsLeuAspSerMetIleGlnLeuCysSerLysLeuArgAsnLeuLeuHisAspAsnGluLeuSerGlyValLysAlaCysLeuArgArgLysValCysGluGlnGluGluLysTyrGluIleProGluGlyProArgArgSerArgLeuAsnArgGluGlnLeuLeuProLysLeuPheAspGlyCysTyrPheTyrLeuTrpGlyThrPheLysHisHisProLysAspAsnLeuIleLysLeuValThrAlaGlyGlyGlyGlnIleLeuSerArgLysProLysProAspSerAspValThrGlnThrIleAsnThrValAlaTyrHisAlaArgProAspSerAspGlnArgPheCysThrGlnTyrIleIleTyrGluAspLeuCysAsnTyrHisProGluArgValArgGlnGlyLysValTrpLysAlaProSerSerTrpPheIleAspCysValMetSerPheGluLeuLeuProLeuAspSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS681818" }, { "coordinates": [ { "allele": "T", "end": 329, "endIntronDirection": "+", "endIntronOffset": 4698, "referenceAllele": "C", "start": 329, "startIntronDirection": "+", "startIntronOffset": 4697 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104212.2:n.329+4698C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702953" }, { "coordinates": [ { "allele": "T", "end": 272, "endIntronDirection": "-", "endIntronOffset": 10853, "referenceAllele": "C", "start": 272, "startIntronDirection": "-", "startIntronOffset": 10854 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104215.2:n.273-10854C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702955" }, { "coordinates": [ { "allele": "T", "end": 412, "referenceAllele": "C", "start": 411 } ], "gene": "http://reg.genome.network/gene/GN000952", "geneNCBI_id": 580, "geneSymbol": "BARD1", "hgvs": [ "NR_104216.2:n.412C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS702956" } ], "type": "nucleotide" }