ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4137G>A (p.Gln1379=) (rs768918982)

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Total submissions: 6
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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) RCV000495714 SCV000578792 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/).
Ambry Genetics RCV000215165 SCV000273879 likely benign Hereditary cancer-predisposing syndrome 2015-01-30 criteria provided, single submitter clinical testing
Invitae RCV000227981 SCV000283229 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000426931 SCV000527404 likely benign not specified 2016-05-05 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000426931 SCV000600576 likely benign not specified 2017-07-11 criteria provided, single submitter clinical testing
Color RCV000215165 SCV000906076 likely benign Hereditary cancer-predisposing syndrome 2018-08-21 criteria provided, single submitter clinical testing

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