ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.417C>G (p.Tyr139Ter)

dbSNP: rs200917541
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001928907 SCV002206484 pathogenic Familial cancer of breast 2023-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr139*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 28724667, 31650731). ClinVar contains an entry for this variant (Variation ID: 1423536). For these reasons, this variant has been classified as Pathogenic.

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