ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1506A>G (p.Leu502=)

dbSNP: rs786203671
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Total submissions: 6
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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) RCV000495398 SCV000578084 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 RCV000167082 SCV000217910 likely benign Hereditary cancer-predisposing syndrome 2014-12-09 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 RCV000462376 SCV000717379 likely benign not provided 2019-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16327748, 11933205)
Color Diagnostics, LLC DBA Color Health RCV000167082 SCV001360027 likely benign Hereditary cancer-predisposing syndrome 2017-10-23 criteria provided, single submitter clinical testing
Invitae RCV001400117 SCV001601919 likely benign Hereditary breast ovarian cancer syndrome 2021-11-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003317121 SCV004021080 likely benign not specified 2023-06-26 criteria provided, single submitter clinical testing

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