BAP1
Tumor-predisposition control/caution
| MANE transcript | ENST00000460680.6 |
|---|---|
| ClinVar P/LP records | 413 |
| Low-record-burden flag | no |
| Unit rows | 91 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 18.4% | 479 bp |
| Adjacent exon block | 43.3% | 1,107 bp |
| Downstream-CDS | 96.9% | 2,150 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 |
|---|---|---|---|---|
| BAP1-related tumor predisposition syndrome | 296 | Tumor-predisposition control context | 0.459459 | 0.962838 |
| Hereditary cancer-predisposing syndrome | 195 | Tumor-predisposition control context | 0.400000 | 0.958974 |