Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000547416 | SCV000632922 | pathogenic | Familial cancer of breast | 2017-02-04 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the CHEK2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular gross deletion has not been reported in the literature, exon-level deletions in CHEK2 have been reported in affected individuals and are known to be pathogenic (PMID: 16551709, 24763289, 17085682). For these reasons, this variant has been classified as Pathogenic. |