SMAD4
Tumor-predisposition control/caution
| MANE transcript | ENST00000342988.8 |
|---|---|
| ClinVar P/LP records | 300 |
| Low-record-burden flag | no |
| Unit rows | 61 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 14.3% | 169 bp |
| Adjacent exon block | 53.3% | 7,330 bp |
| Downstream-CDS | 100.0% | 1,656 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 |
|---|---|---|---|---|
| Juvenile polyposis syndrome | 183 | Tumor-predisposition control context | 0.551913 | 1.000000 |
| Hereditary cancer-predisposing syndrome | 117 | Tumor-predisposition control context | 0.572650 | 1.000000 |
| Familial thoracic aortic aneurysm and aortic dissection | 112 | Tumor-predisposition control context | 0.562500 | 1.000000 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 75 | Tumor-predisposition control context | 0.573333 | 1.000000 |