PTEN
Tumor-predisposition control/caution
| MANE transcript | ENST00000371953.8 |
|---|---|
| ClinVar P/LP records | 1243 |
| Low-record-burden flag | no |
| Unit rows | 43 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 24.1% | 239 bp |
| Adjacent exon block | 73.7% | 817 bp |
| Downstream-CDS | 91.1% | 1,130 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 |
|---|---|---|---|---|
| PTEN hamartoma tumor syndrome | 682 | Tumor-predisposition control context | 0.728739 | 0.898827 |
| Hereditary cancer-predisposing syndrome | 537 | Tumor-predisposition control context | 0.729981 | 0.919926 |
| Cowden syndrome 1 | 513 | Tumor-predisposition control context | 0.773879 | 0.923977 |
| Macrocephaly-autism syndrome | 79 | Tumor-predisposition control context | 0.810127 | 0.949367 |
| Glioma susceptibility 2 | 52 | Tumor-predisposition control context | 0.788462 | 0.942308 |
| PTEN-related disorder | 32 | Tumor-predisposition control context | 0.937500 | 0.968750 |
| Cowden syndrome | 32 | Tumor-predisposition control context | 0.812500 | 0.968750 |
| Familial meningioma | 30 | Tumor-predisposition control context | 0.766667 | 0.900000 |