Variant Summary
- Also known as
- Y641H,TYR641HIS,TYR646HIS
- HGVS
- NC_000007.14:g.148811636A>G,NC_000007.13:g.148508728A>G,ENSP00000320147.2:p.Tyr646His,ENST00000460911.5:c.1921T>C,ENSP00000419711.1:p.Tyr641His,NM_004456.5:c.1936T>C,NP_004447.2:p.Tyr646His,NM_001203247.2:c.1921T>C,NP_001190176.1:p.Tyr641His,ENST00000320356.7:c.1936T>C
- Variant Type(s)
- missense_variant
- Evidence Items
- 2
Evidence Level Distribution
Level C: 1Level D: 1
Evidence Items
Showing CIViC evidence rows where gene = EZH2 and variant = Y646H.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Functional | Supports | Gain of Function | 3 | ||
| C | Predictive | Supports | Sensitivity/Response | Diffuse Large B-cell Lymphoma | Tazemetostat | 2 |