ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6037A>G (p.Lys2013Glu) (rs80358840)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000044826 SCV000072839 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-09-24 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 2013 of the BRCA2 protein (p.Lys2013Glu). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer (PMID: 19491284). ClinVar contains an entry for this variant (Variation ID: 51995). 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000162633 SCV000213069 uncertain significance Hereditary cancer-predisposing syndrome 2014-12-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000162633 SCV000906923 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083121 SCV000115195 uncertain significance Breast-ovarian cancer, familial 2 2011-10-21 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000083121 SCV000146754 uncertain significance Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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