ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.490A>C (p.Ser164Arg)

dbSNP: rs2053945090
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189608 SCV001356920 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-03 criteria provided, single submitter clinical testing This missense variant replaces serine with arginine at codon 164 of the CHEK2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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