BAP1 germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-BAP1-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | BAP1 germline патогенний варіант |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-NCCN-KIDNEY-2025 SRC-NCCN-MELANOMA-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "BAP1", "gene_hugo_id": "HGNC:950", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
BAP1 germline — drives BAP1 Tumor Predisposition Syndrome. Core spectrum: uveal melanoma (lifetime ~30%), malignant mesothelioma (esp. peritoneal), clear-cell RCC, cutaneous melanoma, atypical Spitz tumors. Cutaneous BAP1-inactivated melanocytic tumors (BIMTs) are clinical clue. Surveillance: annual ophthalmologic exam + dermatologic + abdominal imaging. STUB pending two-Co-Lead signoff.
Used By
No reverse references found in the YAML corpus.