Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Asp817Val (p.D817V)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Asp817Val (p.D817V) ( ENST00000686011.1, ENST00000687109.1, ENST00000288135.6, ENST00000412167.7, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- In an in vitro study, COS-7 cells expressing KIT D816V activating mutation demonstrated resistance to 1uM dasatinib treatment. In a separate in vitro study, TF-1 cells expressing KIT D816V activating mutation demonstrated resistance to 1 and 10 uM imatinib treatment. Sensitivity was determined by assessing reduced mutant KIT auto-phosphorylation with addition of inhibitors. No reduction in D816V autophosphorylation was observed with inhibitor treatment.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7465
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/65
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Supports
- Drug
- Dasatinib,Imatinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 25317746