ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1376-13A>G (rs1064793330)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487384 SCV000565824 uncertain significance not provided 2019-09-03 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Fulgent Genetics,Fulgent Genetics RCV000764371 SCV000895406 uncertain significance Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate 2018-10-31 criteria provided, single submitter clinical testing
Color Health, Inc RCV000775796 SCV000910247 uncertain significance Hereditary cancer-predisposing syndrome 2021-01-28 criteria provided, single submitter clinical testing This variant causes an A to G nucleotide substitution at the -13 position of intron 12 of the CHEK2 gene. Splice site prediction tools suggest that this variant may have an impact on RNA splicing by the creation of a de novo splice acceptor site that might compete with the natural acceptor site. Use of this new acceptor site may allow for the insertion of 4 new amino acids within the CHEK2 kinase domain. To our knowledge, RNA or protein 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 been identified in 2/233702 chromosomes 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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