Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000541152 | SCV000624601 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2018-02-19 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 8 of the PMS2 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Deletions of exon 8 have been reported in the literature in the heterozygous state in an individual affected with colorectal cancer (PMID: 18602922) and in the homozygous state in an individual with constitutional mismatch repair deficiency (PMID: 24440087). Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic. |