ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1594G>A (p.Glu532Lys) (rs138734772)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000210974 SCV000786140 uncertain significance Breast-ovarian cancer, familial 2 2018-03-07 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000502252 SCV000591756 uncertain significance not specified 2013-11-08 criteria provided, single submitter clinical testing
Invitae RCV000804265 SCV000944167 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 532 of the BRCA2 protein (p.Glu532Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs138734772, ExAC 0.002%). This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 188427). 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 lysine 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.
Michigan Medical Genetics Laboratories,University of Michigan RCV000210974 SCV000195961 uncertain significance Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759578 SCV000888985 uncertain significance not provided 2018-03-19 criteria provided, single submitter clinical testing

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