ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1386G>A (p.Gly462=)

gnomAD frequency: 0.00001  dbSNP: rs876659749
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Total submissions: 7
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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) RCV000495139 SCV000578444 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 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 RCV000219235 SCV000276545 likely benign Hereditary cancer-predisposing syndrome 2018-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001705220 SCV000516746 likely benign not provided 2020-02-26 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000219235 SCV000688335 likely benign Hereditary cancer-predisposing syndrome 2017-06-20 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000443810 SCV000698857 likely benign not specified 2019-07-12 criteria provided, single submitter clinical testing
Invitae RCV000877023 SCV001019692 likely benign Hereditary breast ovarian cancer syndrome 2024-01-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001705220 SCV002046938 likely benign not provided 2021-01-23 criteria provided, single submitter clinical testing

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