Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Trp558_Lys559del (p.W558_K559del)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1,
ENST00000687109.1,
ENST00000687246.1 )
KIT p.Trp558_Lys559del (p.W558_K559del) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- CIViC Evidence
- Description
- In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT W557_K558del primary activating mutation demonstrated sensitivity to imatinib (IC50: 27nmol/L) and ponatinib (IC50: 3nmol/L) treatments. IC50 was determined by assessing cell viability. In mice treated in vivo with Ba/F3 cells expressing KIT W557_K558 mutation, tumor volume was significantly reduced in response to both ponatinib and imatinib treatments.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4084
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/961
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Supports
- Drug
- Imatinib,Ponatinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25239608