ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9187C>T (p.Pro3063Ser)

gnomAD frequency: 0.00001  dbSNP: rs80359176
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000045740 SCV000073753 likely benign Hereditary breast ovarian cancer syndrome 2024-07-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000773278 SCV000906961 likely benign Hereditary cancer-predisposing syndrome 2017-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773278 SCV001180266 likely benign Hereditary cancer-predisposing syndrome 2019-12-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV002225281 SCV002504298 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002267818 SCV002551842 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000114062 SCV004020271 benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-03-10 criteria provided, single submitter clinical testing This variant is considered benign. This variant has been observed in trans with a known pathogenic variant in one or more individuals lacking clinical features consistent with gene-specific recessive disease. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].
Breast Cancer Information Core (BIC) (BRCA2) RCV000114062 SCV000147561 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2002-05-29 no assertion criteria provided clinical testing
BRCAlab, Lund University RCV000114062 SCV004243857 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2020-03-02 no assertion criteria provided clinical testing

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