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 sunitinib (IC50: 7 +/- 2nmol/L) and regorafenib (IC50: 30 +/- 14nmol/L) treatments. IC50 was determined by assessing cell viability.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4087
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/961
Rating
2
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Sunitinib,Regorafenib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
25239608
Drugs
Drug NameSensitivitySupported
RegorafenibSensitivitytrue
SunitinibSensitivitytrue