ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=)

gnomAD frequency: 0.00005  dbSNP: rs368576266
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495245 SCV000578676 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000124012 SCV000167418 benign not specified 2014-04-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000163185 SCV000213706 likely benign Hereditary cancer-predisposing syndrome 2014-12-18 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000198679 SCV000253056 likely benign Hereditary breast ovarian cancer syndrome 2024-12-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163185 SCV000689173 likely benign Hereditary cancer-predisposing syndrome 2017-08-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758972 SCV000887958 likely benign not provided 2022-09-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124012 SCV000918988 likely benign not specified 2019-12-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163185 SCV002532003 likely benign Hereditary cancer-predisposing syndrome 2021-03-23 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV000495245 SCV004846120 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-12-13 criteria provided, single submitter clinical testing
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency RCV000198679 SCV000586989 uncertain significance Hereditary breast ovarian cancer syndrome 2017-04-18 no assertion criteria provided clinical testing
True Health Diagnostics RCV000163185 SCV000805248 likely benign Hereditary cancer-predisposing syndrome 2018-03-15 no assertion criteria provided clinical testing

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