BARD1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000260947.9 |
|---|---|
| ClinVar P/LP records | 610 |
| Low-record-burden flag | no |
| Unit rows | 55 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 39.3% | 950 bp |
| Adjacent exon block | 62.8% | 1,446 bp |
| Downstream-CDS | 94.8% | 2,173 bp |
Why this classification?
- Downstream-CDS record coverage is 94.8% with an estimated payload of 2,173 bp (≤5 kb).
- This label is boundary-based: high coverage can occur when many coding records lie downstream of an early transcript boundary.
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 |
|---|---|---|---|---|
| Familial cancer of breast | 501 | Boundary-CDS payload architecture | 0.616766 | 0.922156 |
| Hereditary cancer-predisposing syndrome | 314 | Boundary-CDS payload architecture | 0.643312 | 0.936306 |
| Hereditary breast ovarian cancer syndrome | 22 | Boundary-CDS payload architecture | 0.681818 | 1.000000 |
| BARD1-related cancer predisposition | 22 | Boundary-CDS payload architecture | 0.545455 | 0.909091 |