ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2482T>C (p.Tyr828His) (rs1060502466)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677829 SCV000803989 uncertain significance Neoplasm of the breast 2017-03-29 no assertion criteria provided clinical testing
Ambry Genetics RCV000566807 SCV000673122 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Color RCV000566807 SCV000688762 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-30 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000487989 SCV000575732 likely pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000463755 SCV000549780 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-09-20 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 828 of the BRCA2 protein (p.Tyr828His). The tyrosine residue is weakly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual with esophageal squamous cell carcinoma (PMID: 22126563). 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, this variant is a rare missense change that is not predicted to affect protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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