Variant Summary
- Also known as
- SER249CYS,RS121913483
- HGVS
- NC_000004.11:g.1803568C>G,NM_000142.4:c.746C>G,NP_000133.1:p.Ser249Cys,ENST00000340107.4c.746C>G
- Variant Type(s)
- missense_variant
- Evidence Items
- 7
Evidence Level Distribution
Level C: 1Level D: 6
Evidence Items
Showing CIViC evidence rows where gene = FGFR3 and variant = S249C.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Predictive | Supports | Sensitivity/Response | Cancer | Infigratinib,PD173074 | 4 |
| D | Oncogenic | Supports | Oncogenicity | Bladder Urothelial Carcinoma | 4 | |
| D | Oncogenic | Supports | Oncogenicity | Lung Squamous Cell Carcinoma | 3 | |
| D | Predictive | Supports | Resistance | Transitional Cell Carcinoma | Cisplatin | 3 |
| D | Functional | Supports | Gain of Function | 3 | ||
| D | Oncogenic | Supports | Oncogenicity | Transitional Cell Carcinoma | 3 | |
| C | Predictive | Supports | Sensitivity/Response | Transitional Cell Carcinoma | Pazopanib | 2 |