ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.395G>A (p.Arg132Lys)

dbSNP: rs750393263
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528472 SCV000633178 uncertain significance Familial cancer of breast 2023-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 132 of the CHEK2 protein (p.Arg132Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 16551709). This variant is also known as c.524G>A (p.Arg175Lys). ClinVar contains an entry for this variant (Variation ID: 460830). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The lysine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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