ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.845A>G (p.His282Arg)

dbSNP: rs1555920110
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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 RCV001017835 SCV001178992 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-09 criteria provided, single submitter clinical testing The p.H282R variant (also known as c.845A>G), located in coding exon 6 of the CHEK2 gene, results from an A to G substitution at nucleotide position 845. The histidine at codon 282 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001017835 SCV002053248 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-07 criteria provided, single submitter clinical testing This missense variant replaces histidine with arginine at codon 282 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). To our knowledge, functional studies have not been reported 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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