Variant Summary
- Also known as
- C.239DELG,SER80ILEFS*79,S80IFS*79 (C.239DELG)
- HGVS
- NP_000542.1:p.Ser80IlefsTer,ENST00000256474.2:c.239del,NC_000003.11:g.10183770del,NM_000551.3:c.239del
- Variant Type(s)
- frameshift_truncation,minus_1_frameshift_variant
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = S80fs (c.239del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |