ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5289C>T (p.Leu1763=) (rs763052573)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567388 SCV000668579 likely benign Hereditary cancer-predisposing syndrome 2015-10-26 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) RCV000495060 SCV000578862 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 RCV000587867 SCV000694854 uncertain significance not provided 2017-02-23 criteria provided, single submitter clinical testing Variant summary: The BRCA2 5289C>T (p.Leu1763Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool, Mutation Taster, predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts no significant changes in ESE sites caused by the variant. However, these predictions have yet to be confirmed by functional studies. This variant was found in 1/120444 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). In addition, one 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 VUS-possibly benign.
Invitae RCV000226267 SCV000283259 likely benign Hereditary breast and ovarian cancer syndrome 2017-06-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000508334 SCV000600636 likely benign not specified 2017-01-11 criteria provided, single submitter clinical testing

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