ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.*2dup

gnomAD frequency: 0.00004  dbSNP: rs749257861
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164412 SCV000215049 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-22 criteria provided, single submitter clinical testing The c.*2dupC variant is located in the 3' untranslated region (3’UTR) of the CHEK2 gene. This variant results from the duplication of C two nucleotides after the termination codon of the CHEK2 gene. This alteration occurs within the non-coding region of the gene and may not interfere with gene function; however, since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000164412 SCV000902792 likely benign Hereditary cancer-predisposing syndrome 2016-10-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193682 SCV001362694 uncertain significance not specified 2021-09-16 criteria provided, single submitter clinical testing Variant summary: CHEK2 c.*2dupC is located in the untranslated mRNA region downstream of the termination codon. The variant allele was found at a frequency of 3.9e-05 in 233634 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.*2dupC has been reported in the literature in a study looking at prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related cohort (Karemer_2019). This report does not provide an unequivocal conclusion about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two ClinVar submissions (evaluation after 2014) cite the variant once as likely benign and once as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV001675647 SCV001895672 benign not provided 2015-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001675647 SCV004221710 uncertain significance not provided 2023-02-03 criteria provided, single submitter clinical testing The frequency of this variant in the general population, 0.000064 (8/124118 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in an individual with lung cancer (PMID: 33594163 (2021)). Based on the available information, we are unable to determine the clinical significance of this variant.
Mayo Clinic Laboratories, Mayo Clinic RCV001675647 SCV005410213 uncertain significance not provided 2024-01-04 criteria provided, single submitter clinical testing BP4

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