ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.543_549del (p.Pro182fs)

dbSNP: rs2053939874
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001214520 SCV001386204 pathogenic Familial cancer of breast 2019-04-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This variant has not been reported in the literature in individuals with CHEK2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro182Ilefs*10) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product.

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