Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Ala503_Tyr504insAlaTyr (p.A503_Y504insAY)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Ala503_Tyr504insAlaTyr (p.A503_Y504insAY) ( 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, Chinese hamster ovary cells expressing KIT A502_Y503INSAY demonstrated comparable sensitivity to sunitinib treatment compared to CHO cells expressing ligand activated wild-type KIT (IC50<100 nmol/L). Sensitivity was determined by assessing KIT auto-phosphorylation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4100
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1558
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Does Not Support
- Drug
- Sunitinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 18955458
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Sunitinib | Resitance or Non-Reponse | false |