ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4251G>A (p.Val1417=)

gnomAD frequency: 0.00003  dbSNP: rs777057839
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Total submissions: 5
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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) RCV000495721 SCV000578274 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/).
Eurofins Ntd Llc (ga) RCV000174361 SCV000225647 uncertain significance not provided 2015-04-20 criteria provided, single submitter clinical testing
Invitae RCV001088804 SCV000560198 likely benign Hereditary breast ovarian cancer syndrome 2023-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573684 SCV000665835 likely benign Hereditary cancer-predisposing syndrome 2016-04-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000174361 SCV004219397 likely benign not provided 2023-04-22 criteria provided, single submitter clinical testing

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