ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.669G>A (p.Lys223=)

dbSNP: rs1131692066
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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) RCV000494783 SCV000578031 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/).
Color Diagnostics, LLC DBA Color Health RCV000581470 SCV000688652 likely benign Hereditary cancer-predisposing syndrome 2016-09-07 criteria provided, single submitter clinical testing
GeneDx RCV000601235 SCV000716615 likely benign not specified 2017-03-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001054324 SCV001218633 likely benign Hereditary breast ovarian cancer syndrome 2024-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000581470 SCV002665386 likely benign Hereditary cancer-predisposing syndrome 2021-05-21 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.
All of Us Research Program, National Institutes of Health RCV000494783 SCV004818426 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-04-27 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358485 SCV001554232 uncertain significance not provided no assertion criteria provided clinical testing

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