ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4983A>G (p.Glu1661=)

dbSNP: rs2052354666
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004950267 SCV005550081 likely benign Hereditary cancer-predisposing syndrome 2024-07-29 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.
Brotman Baty Institute, University of Washington RCV001072914 SCV001238376 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro
Genomic Center, National Cancer Institute RCV002280156 SCV002568370 uncertain significance Colorectal cancer no assertion criteria provided case-control

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