ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7628A>G (p.Tyr2543Cys) (rs431825354)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509648 SCV000608235 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Color RCV000509648 SCV000683896 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-11 criteria provided, single submitter clinical testing
Counsyl RCV000082976 SCV000488836 uncertain significance Breast-ovarian cancer, familial 2 2016-09-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000082976 SCV000575762 uncertain significance Breast-ovarian cancer, familial 2 2016-02-08 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765136 SCV000896362 uncertain significance Familial cancer of breast; Breast-ovarian cancer, familial 2; Fanconi anemia, complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer 2; Glioma susceptibility 3 2018-10-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000504525 SCV000593755 uncertain significance not specified 2015-10-22 criteria provided, single submitter clinical testing
Invitae RCV000122930 SCV000166188 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-04-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 2543 of the BRCA2 protein (p.Tyr2543Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs431825354, ExAC 0.02%). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 96855). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C25". The cysteine 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758949 SCV000887917 uncertain significance not provided 2018-04-13 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082976 SCV000115050 uncertain significance Breast-ovarian cancer, familial 2 2012-05-01 no assertion criteria provided clinical testing

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