ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7980T>C (p.Tyr2660=) (rs397507949)

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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 RCV000163208 SCV000213731 likely benign Hereditary cancer-predisposing syndrome 2014-04-23 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495643 SCV000578620 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 RCV000590306 SCV000695113 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7980T>C (p.Tyr2660Tyr) variant involves the alteration of a conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts alterations to ESE binding. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 116696 control chromosomes (ExAC). In addition, a clinical diagnostic laboratory has classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign."

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