ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1427C>A (p.Thr476Lys) (rs142763740)

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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 RCV000570223 SCV000675997 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000570223 SCV000689654 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-24 criteria provided, single submitter clinical testing
GeneKor MSA RCV000570223 SCV000821993 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000698621 SCV000827298 uncertain significance Familial cancer of breast 2018-08-30 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 476 of the CHEK2 protein (p.Thr476Lys). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with prostate cancer (PMID: 16835864). ClinVar contains an entry for this variant (Variation ID: 486833). Experimental studies have shown that this missense change partially reduces CHEK2 kinase activity (PMID: 22419737, 16835864). 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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