PMS2
Tumor-predisposition control/caution
| MANE transcript | ENST00000265849.12 |
|---|---|
| ClinVar P/LP records | 921 |
| Low-record-burden flag | no |
| Unit rows | 79 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 27.9% | 862 bp |
| Adjacent exon block | 50.2% | 1,301 bp |
| Downstream-CDS | 97.8% | 2,563 bp |
Why this classification?
- This gene is retained as a control/caution class because high ClinVar burden should not be read as replacement suitability.
How to read this page
Record coverage summarizes ClinVar P/LP records mapped to this gene. It does not estimate patient coverage, editing efficiency, therapeutic efficacy, or safety.
Downstream-CDS values are transcript-boundary hypotheses. High downstream coverage can be boundary-driven and should be read with payload and context burden.
Condition-associated pathogenic-record groups
Record-level ClinVar condition facets. These are not patient cohorts, disease prevalence, or patient coverage.
| Condition label | P/LP records | Condition architecture | Local coverage | Boundary-CDS coverage |
|---|---|---|---|---|
| Hereditary cancer-predisposing syndrome | 594 | Tumor-predisposition control context | 0.521886 | 0.964646 |
| Lynch syndrome 4 | 477 | Tumor-predisposition control context | 0.505241 | 0.962264 |
| Hereditary nonpolyposis colorectal neoplasms | 468 | Tumor-predisposition control context | 0.521368 | 0.957265 |
| Lynch syndrome | 147 | Tumor-predisposition control context | 0.496599 | 0.891156 |
| Hereditary nonpolyposis colon cancer | 80 | Tumor-predisposition control context | 0.600000 | 0.950000 |
| Mismatch repair cancer syndrome 4 | 65 | Tumor-predisposition control context | 0.538462 | 0.907692 |
| Mismatch repair cancer syndrome 1 | 28 | Tumor-predisposition control context | 0.428571 | 0.857143 |
| PMS2-related disorder | 27 | Tumor-predisposition control context | 0.518519 | 0.925926 |