ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7749T>C (p.Asp2583=) (rs786201284)

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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 RCV000163233 SCV000213758 likely benign Hereditary cancer-predisposing syndrome 2014-11-24 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495651 SCV000578477 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 RCV000586804 SCV000695088 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing Variant summary: The c.7749T>C (p.Asp2583=) in BRCA2 gene is a synonymous change that involves a non-conserved nucleotide. 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 control dataset of ExAC and has not, to our knowledge, been reported in affected individuals. It was cited as likely Benign by a reputable database/clinical laboratory. Lastly, it was identified in an individual tested positive for c.175C>T(p.Q59*) in NBN gene. Taking together, the variant was classified as VUS-Possibly Benign.

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