Annotation Detail
Information
- Associated Genes
- PTEN
- Associated Variants
-
PTEN p.Arg173Cys (p.R173C)
(
ENST00000472832.3,
ENST00000371953.8,
ENST00000688308.1,
ENST00000700021.1,
ENST00000700029.2,
ENST00000713839.1 )
PTEN p.Arg173Cys (p.R173C) ( ENST00000371953.8, ENST00000472832.3, ENST00000688308.1, ENST00000700021.1, ENST00000700029.2, ENST00000713839.1 ) - Associated Disease
- endometrial hyperplasia
- Source Database
- CIViC Evidence
- Description
- Maxwell et al identified R173C in 1 subject (of 51 endometrial hyperplasias assayed for mutations in PTEN), and identified 10 mutations of 51 in PTEN overall (20%). No additional functional testing or clinical description was given.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1934
- Gene URL
- https://civic.genome.wustl.edu/links/genes/41
- Variant URL
- https://civic.genome.wustl.edu/links/variants/838
- Rating
- 1
- Evidence Type
- Predisposing
- Disease
- Endometrial Hyperplasia
- Evidence Direction
- Supports
- Evidence Level
- E
- Clinical Significance
- Uncertain Significance
- Pubmed
- 9635567
Drugs