ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6216C>T (p.Ser2072=) (rs786201410)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163725 SCV000214299 likely benign Hereditary cancer-predisposing syndrome 2015-10-10 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495088 SCV000578819 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/).
Integrated Genetics/Laboratory Corporation of America RCV000586983 SCV000694948 uncertain significance not provided 2016-04-11 criteria provided, single submitter clinical testing Variant summary: Variant Summary: The c.6216C>T (p.Ser2072=) causes a synonymous change that involves a non-conserved nucleotide with a prediction of being a "disease-causing" by mutation taster. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is absent from the large and broad control population dataset of ExAC. The variant has not, to our knowledge, been reported in affected individuals via publications. Lastly, the variant has been reported as Likely Benign by reputable database/clinical laboratory without evidence to independently evaluate. Taken together, the variant was classified as VUS- Likely Benign until additional evidence becomes available.

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