Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000566253 | SCV000670740 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-07-21 | criteria provided, single submitter | clinical testing | The c.162_163insAATT pathogenic mutation, located in coding exon 2 of the PMS2 gene, results from an insertion of 4 nucleotides at position 162, causing a translational frameshift with a predicted alternate stop codon (p.D55Nfs*2). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Invitae | RCV000695663 | SCV000824177 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-10-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp55Asnfs*2) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 484246). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003459366 | SCV004205362 | likely pathogenic | Lynch syndrome 4 | 2023-10-20 | criteria provided, single submitter | clinical testing |