Variant Summary
- Also known as
- ARG248GLN,RS11540652
- HGVS
- NM_000546.5:c.743G>A,NP_000537.3:p.Arg248Gln,NC_000017.10:g.7577538C>T,ENST00000269305.4:c.743G>A
- Variant Type(s)
- missense_variant
- Evidence Items
- 7
Evidence Level Distribution
Level B: 2Level D: 5
Evidence Items
Showing CIViC evidence rows where gene = TP53 and variant = R248Q.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Predictive | Supports | Resistance | Cancer | MDM2 Inhibitor AMGMDS3 | 4 |
| D | Predisposing | Supports | Predisposition | Lymphoma | 4 | |
| D | Functional | Supports | Dominant Negative | 4 | ||
| D | Functional | Does Not Support | Neomorphic | 4 | ||
| B | Prognostic | Supports | Poor Outcome | Breast Cancer | 3 | |
| B | Prognostic | Supports | Poor Outcome | Breast Cancer | 3 | |
| D | Functional | Supports | Dominant Negative | 3 |