ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2580A>G (p.Thr860=)

gnomAD frequency: 0.00001  dbSNP: rs556684572
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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) RCV000495801 SCV000578394 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 RCV000213501 SCV000278238 likely benign Hereditary cancer-predisposing syndrome 2015-09-01 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.
GeneDx RCV000615805 SCV000716291 likely benign not specified 2017-02-21 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.
Color Diagnostics, LLC DBA Color Health RCV000213501 SCV000904130 likely benign Hereditary cancer-predisposing syndrome 2018-04-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000615805 SCV000918762 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001481455 SCV001685800 likely benign Hereditary breast ovarian cancer syndrome 2024-04-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000495801 SCV004815676 likely benign Breast-ovarian cancer, familial, susceptibility to, 1 2023-12-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000977545 SCV001551797 uncertain significance not provided no assertion criteria provided clinical testing

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