Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233990 | SCV001406615 | pathogenic | Familial cancer of breast | 2022-03-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 960461). 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). This sequence change creates a premature translational stop signal (p.Ala322Leufs*27) 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). |
Ambry Genetics | RCV002379891 | SCV002694180 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-12-11 | criteria provided, single submitter | clinical testing | The c.963delA pathogenic mutation, located in coding exon 8 of the CHEK2 gene, results from a deletion of one nucleotide at nucleotide position 963, causing a translational frameshift with a predicted alternate stop codon (p.A322Lfs*27). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |