BRCA2
Tumor-predisposition control/caution
| MANE transcript | ENST00000380152.8 |
|---|---|
| ClinVar P/LP records | 5554 |
| Low-record-burden flag | no |
| Unit rows | 151 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 47.9% | 4,932 bp |
| Adjacent exon block | 63.8% | 6,642 bp |
| Downstream-CDS | 100.0% | 10,254 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, 2 | 3,395 | Tumor-predisposition control context | 0.641532 | 0.995582 |
| Hereditary breast ovarian cancer syndrome | 3,209 | Tumor-predisposition control context | 0.638205 | 0.992521 |
| Hereditary cancer-predisposing syndrome | 2,743 | Tumor-predisposition control context | 0.638352 | 0.996719 |
| Familial cancer of breast | 1,011 | Tumor-predisposition control context | 0.654797 | 0.999011 |
| BRCA2-related cancer predisposition | 205 | Tumor-predisposition control context | 0.570732 | 0.985366 |
| Fanconi anemia complementation group D1 | 199 | Tumor-predisposition control context | 0.648241 | 1.000000 |
| Pancreatic cancer, susceptibility to, 2 | 177 | Tumor-predisposition control context | 0.689266 | 1.000000 |
| Medulloblastoma | 170 | Tumor-predisposition control context | 0.682353 | 1.000000 |