ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1280T>C (p.Phe427Ser)

dbSNP: rs1601720056
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000813653 SCV000954021 uncertain significance Familial cancer of breast 2018-11-16 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CHEK2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with serine at codon 427 of the CHEK2 protein (p.Phe427Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine.

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