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
acute myeloid leukemia
Source Database
CIViC Evidence
Description
In this preclinial trial, the AML cell line Kasumi-1 with c-KIT N822K mutation was treated with Ponatinib. This drug effectively inhibits both KIT phosphorylation and viability for Kasumi-1 cells at IC50 values 20 nmol/L and 8 nmol/L respectively.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7379
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
Acute Myeloid Leukemia
Evidence Direction
Supports
Drug
Ponatinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
21482694
Drugs
Drug NameSensitivitySupported
PonatinibSensitivitytrue