MSH2
Tumor-predisposition control/caution
| MANE transcript | ENST00000233146.7 |
|---|---|
| ClinVar P/LP records | 2070 |
| Low-record-burden flag | no |
| Unit rows | 85 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 9.9% | 246 bp |
| Adjacent exon block | 36.0% | 910 bp |
| Downstream-CDS | 93.9% | 2,591 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 | 1,319 | Tumor-predisposition control context | 0.373768 | 0.944655 |
| Lynch syndrome 1 | 1,000 | Tumor-predisposition control context | 0.365000 | 0.933000 |
| Hereditary nonpolyposis colorectal neoplasms | 819 | Tumor-predisposition control context | 0.362637 | 0.926740 |
| Lynch syndrome | 519 | Tumor-predisposition control context | 0.358382 | 0.903661 |
| Hereditary nonpolyposis colon cancer | 110 | Tumor-predisposition control context | 0.390909 | 0.954545 |
| Muir-Torré syndrome | 70 | Tumor-predisposition control context | 0.400000 | 0.785714 |
| Mismatch repair cancer syndrome 2 | 62 | Tumor-predisposition control context | 0.451613 | 0.758065 |
| Carcinoma of colon | 59 | Tumor-predisposition control context | 0.389831 | 0.745763 |