ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2217A>G (p.Lys739=)

gnomAD frequency: 0.00002  dbSNP: rs200521980
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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) RCV000495290 SCV000578167 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 RCV000572103 SCV000668494 likely benign Hereditary cancer-predisposing syndrome 2017-06-09 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.
Color Diagnostics, LLC DBA Color Health RCV000572103 SCV000683020 likely benign Hereditary cancer-predisposing syndrome 2016-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000466094 SCV000717752 likely benign not provided 2019-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001497945 SCV001702684 likely benign Hereditary breast ovarian cancer syndrome 2025-01-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000572103 SCV002538103 likely benign Hereditary cancer-predisposing syndrome 2020-05-06 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493587 SCV004242835 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003493587 SCV005887552 likely benign not specified 2025-01-31 criteria provided, single submitter clinical testing

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