BRCA1
Tumor-predisposition control/caution
| MANE transcript | ENST00000357654.9 |
|---|---|
| ClinVar P/LP records | 4060 |
| Low-record-burden flag | no |
| Unit rows | 127 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 56.2% | 3,426 bp |
| Adjacent exon block | 65.7% | 4,005 bp |
| Downstream-CDS | 100.0% | 5,589 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 |
|---|---|---|---|---|
| Breast-ovarian cancer, familial, susceptibility to, 1 | 2,883 | Tumor-predisposition control context | 0.661117 | 0.984738 |
| Hereditary breast ovarian cancer syndrome | 2,145 | Tumor-predisposition control context | 0.644289 | 0.992075 |
| Hereditary cancer-predisposing syndrome | 1,784 | Tumor-predisposition control context | 0.628924 | 0.993834 |
| Familial cancer of breast | 379 | Tumor-predisposition control context | 0.654354 | 0.994723 |
| Fanconi anemia, complementation group S | 189 | Tumor-predisposition control context | 0.576720 | 0.989418 |
| Breast and/or ovarian cancer | 140 | Tumor-predisposition control context | 0.628571 | 0.985714 |
| Malignant tumor of breast | 114 | Tumor-predisposition control context | 0.526316 | 0.947368 |
| BRCA1-related cancer predisposition | 114 | Tumor-predisposition control context | 0.359649 | 0.973684 |