ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.839C>G (p.Ala280Gly)

gnomAD frequency: 0.00002  dbSNP: rs80357199
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Total submissions: 9
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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) RCV000083226 SCV000244413 benign Breast-ovarian cancer, familial, susceptibility to, 1 2015-08-10 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000767
Ambry Genetics RCV000162969 SCV000213457 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000758852 SCV000512282 likely benign not provided 2021-05-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15726418, 16518693, 17924331, 21990134, 22753008, 27535533, 31453292, 33087888)
Color Diagnostics, LLC DBA Color Health RCV000162969 SCV000683370 likely benign Hereditary cancer-predisposing syndrome 2017-06-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758852 SCV000887739 benign not provided 2019-08-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520463 SCV001729567 benign Hereditary breast ovarian cancer syndrome 2025-02-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162969 SCV002537927 likely benign Hereditary cancer-predisposing syndrome 2022-03-12 criteria provided, single submitter curation
Sharing Clinical Reports Project (SCRP) RCV000083226 SCV000115300 benign Breast-ovarian cancer, familial, susceptibility to, 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083226 SCV000145700 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 1998-03-25 no assertion criteria provided clinical testing

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