ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7491G>A (p.Lys2497=)

dbSNP: rs786203092
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Total submissions: 8
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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) RCV000495070 SCV000578939 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/).
Ambry Genetics RCV000166244 SCV000217024 likely benign Hereditary cancer-predisposing syndrome 2014-10-09 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 RCV000203700 SCV000261600 likely benign Hereditary breast ovarian cancer syndrome 2024-10-07 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000166244 SCV000689051 likely benign Hereditary cancer-predisposing syndrome 2017-07-05 criteria provided, single submitter clinical testing
GeneDx RCV000602218 SCV000717766 likely benign not specified 2017-03-31 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000602218 SCV000916928 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477626 SCV004220560 likely benign not provided 2023-01-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000495070 SCV004844415 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 2023-12-18 criteria provided, single submitter clinical testing

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