ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1959A>G (p.Glu653=)

dbSNP: rs276174817
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Total submissions: 3
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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) RCV000113001 SCV000578542 likely benign Breast-ovarian cancer, familial, susceptibility to, 2 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 RCV002415492 SCV002718219 likely benign Hereditary cancer-predisposing syndrome 2020-09-20 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.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113001 SCV000145986 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2010-01-28 no assertion criteria provided clinical testing

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