Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527688 | SCV000633201 | pathogenic | Familial cancer of breast | 2017-08-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This sequence change deletes 1 nucleotide from exon 5 of the CHEK2 mRNA (c.600delC), causing a frameshift at codon 202. This creates a premature translational stop signal (p.Phe202Leufs*3) and is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV000527688 | SCV004045289 | pathogenic | Familial cancer of breast | 2023-06-26 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |