Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT p.Asn823Lys (p.N823K) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687246.1, ENST00000687109.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 )
KIT p.Asn823Lys (p.N823K) ( 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 N822K was cloned into a plasmid by site-directed mutagenesis of KIT WT cDNA. Chinese hamster ovary cells were transiently transfected with the plasmid. 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 phosphorylated tyrosine, a measure of KIT activation. Cells expressing KIT N822K 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/2448
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/1263
Rating
2
Evidence Type
Predictive
Disease
Cancer
Evidence Direction
Does Not Support
Drug
Imatinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
14645423
Drugs
Drug NameSensitivitySupported
ImatinibSensitivityfalse