Variant Summary
- Also known as
- C.259_260INSA,VAL87FS,V87DFS*45
- HGVS
- ENST00000256474.2:c.259_260insA,NC_000003.11:g.10183790_10183791insA,NM_000551.3:c.259_260insA,NP_000542.1:p.Val87AspfsTer?,NC_000003.12:g.10142106_10142107insA
- Variant Type(s)
- plus_1_frameshift_variant,frameshift_truncation
- Evidence Items
- 1
Evidence Level Distribution
Level C: 1
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = V87fs (c.259_260insA).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 |