Total submissions: 1
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. |