ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.1563A>G (p.Ala521=)

gnomAD frequency: 0.00002  dbSNP: rs754970915
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Total submissions: 4
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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) RCV000495230 SCV000578284 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 RCV000573863 SCV000668483 likely benign Hereditary cancer-predisposing syndrome 2017-04-27 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284536 SCV001470376 likely benign not provided 2019-12-22 criteria provided, single submitter clinical testing
Invitae RCV002063840 SCV002360691 likely benign Hereditary breast ovarian cancer syndrome 2021-06-02 criteria provided, single submitter clinical testing

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