ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4741G>A (p.Glu1581Lys) (rs368952892)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165611 SCV000216345 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-10 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Michigan Medical Genetics Laboratories,University of Michigan RCV000031501 SCV000267771 uncertain significance Breast-ovarian cancer, familial 2 2016-04-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000031501 SCV000296550 uncertain significance Breast-ovarian cancer, familial 2 2016-03-19 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000165611 SCV000747810 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-16 criteria provided, single submitter clinical testing
Invitae RCV000637419 SCV000758876 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1581 of the BRCA2 protein (p.Glu1581Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. 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: 37920). 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.
Counsyl RCV000031501 SCV000786216 uncertain significance Breast-ovarian cancer, familial 2 2018-03-23 criteria provided, single submitter clinical testing
Color RCV000165611 SCV000911100 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-24 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031501 SCV000054106 uncertain significance Breast-ovarian cancer, familial 2 2008-08-12 no assertion criteria provided clinical testing

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