Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228231 | SCV001400620 | pathogenic | Familial cancer of breast | 2022-08-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 955563). For these reasons, this variant has been classified as Pathogenic. 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.Tyr404Leufs*7) 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 | RCV002356970 | SCV002650277 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-02-19 | criteria provided, single submitter | clinical testing | The c.1210_1219del10 pathogenic mutation, located in coding exon 10 of the CHEK2 gene, results from a deletion of 10 nucleotides at nucleotide positions 1210 to 1219, causing a translational frameshift with a predicted alternate stop codon (p.Y404Lfs*7). 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. |
Myriad Genetics, |
RCV001228231 | SCV004045242 | pathogenic | Familial cancer of breast | 2023-06-28 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |