Variant Summary
- Also known as
- ARG176FS,C.528DELG,R177DFS*25 (C.528DELG),R176FS (C.528DELG),R176FS (C.528DEL)
- HGVS
- ENST00000256474.2:c.528delG,NC_000003.11:g.10191535del,NM_000551.3:c.528del,NP_000542.1:p.Arg177AspfsTer25
- Variant Type(s)
- frameshift_truncation,minus_1_frameshift_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = R177fs (c.528del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |