ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8163T>C (p.Leu2721=) (rs786201741)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164184 SCV000214804 likely benign Hereditary cancer-predisposing syndrome 2015-09-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495820 SCV000578732 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 RCV000588506 SCV000695132 uncertain significance not provided 2016-08-16 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.8163T>C (p.Leu2721Leu) variant involves the alteration of a non-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 that this variant may affect ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was absent in 121402 control chromosomes and has not, to our knowledge, been reported in affected individuals via publications. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together and based on the synonymous nature of this variant, it has been classified as a VUS-possibly benign.
Invitae RCV000544721 SCV000635643 likely benign Hereditary breast and ovarian cancer syndrome 2017-09-24 criteria provided, single submitter clinical testing

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