ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8755-12A>G (rs863224317)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432520 SCV000526254 likely benign not specified 2016-03-22 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 RCV000587110 SCV000695180 uncertain significance not provided 2016-05-02 criteria provided, single submitter clinical testing Variant summary: The variant of interest is located at a non-conserved intronic position, not widely known to affect splicing, with 5/5 in silico programs via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP), nor has it been reported, to our knowledge, in affected individuals via publications. A clinical laboratory cites the variant with a classification of "likely benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as a "VUS-possibly benign," until additional information becomes available.
Invitae RCV000198149 SCV000253053 likely benign Hereditary breast and ovarian cancer syndrome 2016-10-11 criteria provided, single submitter clinical testing

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