MLH1
Tumor-predisposition control/caution
| MANE transcript | ENST00000231790.8 |
|---|---|
| ClinVar P/LP records | 1874 |
| Low-record-burden flag | no |
| Unit rows | 103 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 10.4% | 371 bp |
| Adjacent exon block | 31.4% | 881 bp |
| Downstream-CDS | 93.6% | 2,152 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 | 1,103 | Tumor-predisposition control context | 0.306437 | 0.937443 |
| Colorectal cancer, hereditary nonpolyposis, type 2 | 868 | Tumor-predisposition control context | 0.338710 | 0.932028 |
| Hereditary nonpolyposis colorectal neoplasms | 765 | Tumor-predisposition control context | 0.305882 | 0.922876 |
| Lynch syndrome | 596 | Tumor-predisposition control context | 0.302013 | 0.882550 |
| Lynch syndrome 1 | 93 | Tumor-predisposition control context | 0.333333 | 0.881720 |
| Hereditary nonpolyposis colon cancer | 89 | Tumor-predisposition control context | 0.359551 | 0.943820 |
| Muir-Torré syndrome | 70 | Tumor-predisposition control context | 0.328571 | 0.957143 |
| Carcinoma of colon | 56 | Tumor-predisposition control context | 0.321429 | 0.857143 |