ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.78A>G (p.Pro26=) (rs772146565)

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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) RCV000495707 SCV000578835 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/).
Invitae RCV000457290 SCV000560372 likely benign Hereditary breast and ovarian cancer syndrome 2016-04-27 criteria provided, single submitter clinical testing
GeneDx RCV000612425 SCV000727208 likely benign not specified 2018-01-26 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.
Counsyl RCV000495707 SCV000786160 likely benign Breast-ovarian cancer, familial 2 2018-03-12 criteria provided, single submitter clinical testing

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