ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8699A>T (p.Asp2900Val) (rs398122712)

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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 RCV000564657 SCV000666088 uncertain significance Hereditary cancer-predisposing syndrome 2018-05-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000564657 SCV000906584 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-14 criteria provided, single submitter clinical testing
Counsyl RCV000077641 SCV000488315 uncertain significance Breast-ovarian cancer, familial 2 2016-02-25 criteria provided, single submitter clinical testing
Invitae RCV000534579 SCV000635682 uncertain significance Hereditary breast and ovarian cancer syndrome 2017-04-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with valine at codon 2900 of the BRCA2 protein (p.Asp2900Val). The aspartic acid residue is highly conserved and there is a large physicochemical difference between aspartic acid and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 91733). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000077641 SCV000109444 uncertain significance Breast-ovarian cancer, familial 2 2012-10-23 no assertion criteria provided clinical testing

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