ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8592C>T (p.Ala2864=) (rs776881072)

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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) RCV000495687 SCV000578984 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 RCV000554173 SCV000635673 likely benign Hereditary breast and ovarian cancer syndrome 2017-05-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561383 SCV000668518 likely benign Hereditary cancer-predisposing syndrome 2016-12-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Color RCV000561383 SCV000689138 likely benign Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
GeneDx RCV000607463 SCV000723337 likely benign not specified 2017-09-25 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.

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