ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2389A>G (p.Lys797Glu) (rs587782737)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574060 SCV000668566 likely benign Hereditary cancer-predisposing syndrome 2017-07-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: in silico models in agreement (benign),Other strong data supporting benign classification
Color RCV000574060 SCV000911753 likely benign Hereditary cancer-predisposing syndrome 2016-12-19 criteria provided, single submitter clinical testing
Department of Pathology and Molecular Medicine,Queen's University RCV000496950 SCV000588084 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV000168301 SCV000218982 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 797 of the BRCA2 protein (p.Lys797Glu). The lysine residue is moderately 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 not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 188307). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamic acid amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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