ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1983G>A (p.Arg661=)

dbSNP: rs869320788
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Total submissions: 5
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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) RCV000210965 SCV000578382 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/).
Michigan Medical Genetics Laboratories, University of Michigan RCV000210965 SCV000267696 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2016-04-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000583757 SCV000688359 likely benign Hereditary cancer-predisposing syndrome 2016-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001471022 SCV001675124 likely benign Hereditary breast ovarian cancer syndrome 2024-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583757 SCV002718338 likely benign Hereditary cancer-predisposing syndrome 2019-12-30 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.

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