ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.469_592+808del

dbSNP: rs2053903140
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065655 SCV001230625 likely pathogenic Familial cancer of breast 2019-04-08 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing part of exon 4 (c.469_592+809del) of the CHEK2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with CHEK2-related conditions. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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