Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557674 | SCV000632923 | pathogenic | Familial cancer of breast | 2017-02-21 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame gross deletion of the genomic region encompassing exon 3, intron 3, and the first 8 nucleotides of exon 4  of the CHEK2 gene (c.320-?_c.452del). This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular deletion 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. |