Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Val561Gly (p.V561G)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Val561Gly (p.V561G) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, 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 of imatinib sensitivity, KIT V560G was cloned into a plasmid by site-directed mutagenesis of KIT WT cDNA. Chinese hamster ovary cells were transiently transfected with the plasmid. The cells were treated with control media or media containing various concentrations of imatinib for 90 minutes. Protein lysates from the transfected cells were examined for the presence of phosphorylated tyrosine, a measure of KIT activation. Cells expressing KIT V560G were as sensitive to imatinib as ligand activated wildtype KIT (IC50: 100-200 nmol/L).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2469
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/972
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Does Not Support
- Drug
- Imatinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 14645423
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | false |