ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1576G>A (p.Glu526Lys)

dbSNP: rs1555911587
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572342 SCV000661791 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-20 criteria provided, single submitter clinical testing The p.E526K variant (also known as c.1576G>A), located in coding exon 14 of the CHEK2 gene, results from a G to A substitution at nucleotide position 1576. The glutamic acid at codon 526 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001224645 SCV001396858 uncertain significance Familial cancer of breast 2022-11-16 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 479599). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 526 of the CHEK2 protein (p.Glu526Lys).

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