ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9063A>G (p.Glu3021=) (rs786201198)

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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 RCV000163066 SCV000213562 likely benign Hereditary cancer-predisposing syndrome 2015-09-09 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) RCV000494803 SCV000578781 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 RCV000611146 SCV000714436 likely benign not specified 2017-05-04 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 RCV000590294 SCV000695202 uncertain significance not provided 2017-04-07 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.9063A>G (p.Glu3021Glu) variant causes the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a benign outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts the loss of an SF2/ASF (IgM-BRCA1) binding motif. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 117982 control chromosomes. Multiple clinical reputable databases and one reputable diagnostic laboratory classified this variant as a VUS/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 RCV000463212 SCV000560455 likely benign Hereditary breast and ovarian cancer syndrome 2017-05-09 criteria provided, single submitter clinical testing

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