ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.643G>A (p.Ala215Thr)

dbSNP: rs1060502708
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000475949 SCV000550512 uncertain significance Familial cancer of breast 2022-11-09 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 410045). 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 alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 215 of the CHEK2 protein (p.Ala215Thr).
Sema4, Sema4 RCV002257724 SCV002537628 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-03 criteria provided, single submitter curation

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