Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548820 | SCV000624596 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-08-16 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 9-15 of the PMS2 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. A similar copy number variant has been observed in individual(s) with colorectal cancer, Lynch syndrome, constitutional mismatch repair deficiency (PMID: 17258725, 21618646, 23629955). The region of the PMS2 gene that includes exon(s) 14-15 has been determined to be clinically significant (PMID: 21618646, 24440087, 26318770). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |