Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000553258 | SCV000633120 | pathogenic | Familial cancer of breast | 2017-02-10 | criteria provided, single submitter | clinical testing | This sequence change deletes 2 nucleotides from exon 12 of the CHEK2 mRNA (c.1298_1299delAA), causing a frameshift at codon 433. This creates a premature translational stop signal (p.Gln433Argfs*17) and is expected to result in an absent or disrupted protein product. 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). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV000553258 | SCV004043115 | 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. |