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
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
In an in vitro study, an IL3 independent Ba/F3 cell line expressing KIT A502_Y503insAY primary activating mutation demonstrated insensitivity to regorafenib (IC50: 138nmol/L), imatinib (IC50: 143nmol/L), and ponatinib (IC50: 56nmol/L) treatments. In comparison, sensitizing KIT mutation del550-557 showed IC50 22, 13 and 3 nmol/L for these drugs respectively. IC50 was determined by assessing cell viability.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/4630
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/1558
Rating
3
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Does Not Support
Drug
Ponatinib,Regorafenib,Imatinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
25239608
Drugs
Drug NameSensitivitySupported
ImatinibSensitivityfalse
PonatinibSensitivityfalse
RegorafenibSensitivityfalse