ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3717A>G (p.Lys1239=) (rs141196976)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573734 SCV000661179 likely benign Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing
Color RCV000573734 SCV000903461 likely benign Hereditary cancer-predisposing syndrome 2018-05-29 criteria provided, single submitter clinical testing
Counsyl RCV000494995 SCV000786472 likely benign Breast-ovarian cancer, familial 2 2018-05-15 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000430528 SCV000591874 likely benign not specified 2014-04-10 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000494995 SCV000579039 likely benign Breast-ovarian cancer, familial 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/).
GeneDx RCV000430528 SCV000527161 likely benign not specified 2017-02-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000590152 SCV000694712 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing Variant summary: The BRCA2 variant, c.3717A>G (p.Lys1239Lys) causes a synonymous change involving a non-conserved nucleotide with 4/5 programs in silico prediction tools predicting no significanct impact on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 1/120056, which does not exceed the estimated maximal expected allele frequency for a pathogenic BRCA2 variant of 1/1333. The variant has been reported in a BrC case(s) without strong evidence for causality. A reputable database cites the variant as "uncertain significance." Therefore, until additional information (ie, clinical and/or functional studies) become available, the variant of interest has been classified as "VUS-Possibly Benign."
Invitae RCV000548920 SCV000635302 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-09 criteria provided, single submitter clinical testing

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