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
- cancer
- Source Database
- CIViC Evidence
- Description
- Han et al functionally tested the R173C mutation in PTEN using an expression vector construct, assessing phosphatase activity of the mutant construct with two phosphoinositide substrates ("with[ PtdIns(3,4,5)P3] or without[ Ins(1,3,4,5)P4] a diacylglycerol chain"). R173C resides in the NH2-terminal phosphatase domain of PTEN. R173C was one of four mutations (out of 42 tested) that displayed no significant phosphatase activity against either substrate, indicating, by this assay, that the mutation negatively impacts the function of PTEN. However this mutation did not affect the ability of PTEN to bind lipid membranes in-vivo. This data justifies PS3 level evidence for pathogenicity according to ACMG guidelines.
- Variant Origin
- N/A
- Variant Origin
- N/A
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1930
- Gene URL
- https://civic.genome.wustl.edu/links/genes/41
- Variant URL
- https://civic.genome.wustl.edu/links/variants/838
- Rating
- 3
- Evidence Type
- Predisposing
- Disease
- Cancer
- Evidence Direction
- Supports
- Evidence Level
- D
- Clinical Significance
- Uncertain Significance
- Pubmed
- 10866302
Drugs