Variant Summary
- Also known as
- C.390_391DELTA,ASN131PRO,N131PFS*3,ASN131PROFSTER3
- HGVS
- ENST00000256474.2:c.390_391delTA,NC_000003.11:g.10188247_10188248del,NC_000003.12:g.10146563_10146564del,NM_000551.3:c.390_391delTA,NP_000542.1:p.Asn131fs,NP_000542.1:p.Asn131ProfsTer3
- Variant Type(s)
- minus_2_frameshift_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 2
Evidence Items
Showing CIViC evidence rows where gene = VHL and variant = N131fs (c.390_391del).
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| C | Predisposing | Supports | Uncertain Significance | Von Hippel-Lindau Disease | 3 | |
| C | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 3 |