Variant Summary
- Also known as
- ARG173CYS,RS121913293
- HGVS
- NM_000314.6:c.517C>T,NP_000305.3:p.Arg173Cys,ENST00000371953.3:c.517C>T,NC_000010.10:g.89711899C>T
- Variant Type(s)
- missense_variant
- Evidence Items
- 3
Evidence Level Distribution
Level C: 2Level D: 1
Evidence Items
Showing CIViC evidence rows where gene = PTEN and variant = R173C.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| D | Predisposing | Supports | Uncertain Significance | Cancer | 3 | |
| C | Predisposing | Supports | Predisposition | Obsolete PTEN Hamartoma Tumor Syndrome | 3 | |
| C | Oncogenic | Supports | Oncogenicity | Endometrial Hyperplasia | 1 |