ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.988C>G (p.Gln330Glu)

dbSNP: rs768973809
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001209104 SCV001380525 uncertain significance Familial cancer of breast 2021-08-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 330 of the CHEK2 protein (p.Gln330Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs768973809, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 939672). 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"). 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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