Variant Summary
- Also known as
- M54IFS*78 (C.161DUP),M54FS (C.161INST),M54FS (C.161DUPT)
- HGVS
- NC_000003.11:g.10183692dup,NM_000551.3:c.161dup,NP_000542.1:p.Met54IlefsTer?,NC_000003.12:g.10142008dup
- Variant Type(s)
- plus_1_frameshift_variant,frameshift_truncation
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = M54fs (c.161dup).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 4 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |