ClinVar Miner

Submissions for variant NM_007194.3(CHEK2):c.909delG

dbSNP: rs1057517596
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409709 SCV000489280 likely pathogenic Familial cancer of breast 2016-09-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000409709 SCV004504493 pathogenic Familial cancer of breast 2023-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met304Trpfs*16) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 371957). 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).

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