Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000457707 | SCV000550432 | pathogenic | Familial cancer of breast | 2021-06-07 | 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 2 nucleotides from exon 6 of the CHEK2 mRNA (c.783_784delAA), causing a frameshift at codon 263. This creates a premature translational stop signal (p.Glu263Glyfs*8) and is expected to result in an absent or disrupted protein product. |