ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7311T>A (p.Ile2437=)

dbSNP: rs1131692103
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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) RCV000495084 SCV000578481 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/).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508235 SCV000600740 uncertain significance not specified 2017-06-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001474803 SCV001678979 likely benign Hereditary breast ovarian cancer syndrome 2022-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023266 SCV005029777 likely benign Hereditary cancer-predisposing syndrome 2023-11-14 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.

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