ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2211A>G (p.Ala737=) (rs587780647)

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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 RCV000163510 SCV000214068 likely benign Hereditary cancer-predisposing syndrome 2015-01-14 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495004 SCV000578538 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/).
GeneDx RCV000507562 SCV000724271 likely benign not specified 2017-10-26 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000590702 SCV000694595 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2211A>G (p.Ala737Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool, Mutation Taster, predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may create an SF2/ASF ESE site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in the large control population database ExAC (0/121132 control chromosomes). One clinical diagnostic laboratory classified this variant as likely benign, without evidence to independently evaluate. In addition, to our knowledge, the variant of interest has not 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507562 SCV000600503 likely benign not specified 2016-11-23 criteria provided, single submitter clinical testing

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