ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.215A>C (p.Tyr72Ser)

dbSNP: rs769819013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700923 SCV000829700 uncertain significance Familial cancer of breast 2023-08-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs769819013, gnomAD 0.003%). This sequence change replaces tyrosine, which is neutral and polar, with serine, which is neutral and polar, at codon 72 of the CHEK2 protein (p.Tyr72Ser). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 578035).
Color Diagnostics, LLC DBA Color Health RCV001175832 SCV001339593 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV001175832 SCV002728459 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-03 criteria provided, single submitter clinical testing The p.Y72S variant (also known as c.215A>C), located in coding exon 1 of the CHEK2 gene, results from an A to C substitution at nucleotide position 215. The tyrosine at codon 72 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is poorly 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.

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