ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6237G>A (p.Val2079=)

dbSNP: rs864622516
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Total submissions: 9
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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) RCV000410997 SCV000579093 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/).
Labcorp Genetics (formerly Invitae), Labcorp RCV000205256 SCV000260933 likely benign Hereditary breast ovarian cancer syndrome 2024-12-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000205256 SCV000383734 uncertain significance Hereditary breast ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284643 SCV000383735 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000410997 SCV000489267 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570369 SCV000661178 likely benign Hereditary cancer-predisposing syndrome 2015-09-16 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.
Color Diagnostics, LLC DBA Color Health RCV000570369 SCV001350283 likely benign Hereditary cancer-predisposing syndrome 2018-10-25 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477697 SCV004220490 likely benign not provided 2015-03-02 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000410997 SCV004846721 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-07-22 criteria provided, single submitter clinical testing

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