Annotation Detail

Information
Associated Genes
ABL1
Associated Variants
ABL1 p.Met263Val (p.M263V) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Met263Val (p.M263V) ( ENST00000318560.6, ENST00000372348.9 )
Associated Disease
chronic myeloid leukemia
Source Database
CIViC Evidence
Description
In a proliferation assay measuring tritiated thymidine incorporation in the presence of axitinib, Ba/F3 cells carrying the BCR-ABL1 variant showed similar incorporation when harboring fusions with the M244V variant of ABL1 compared to those with wildtype ABL1 (IC50 of 690nM vs. 823 nM), indicating that the M244V variant does not induce resistance.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7771
Gene URL
https://civic.genome.wustl.edu/links/genes/4
Variant URL
https://civic.genome.wustl.edu/links/variants/1021
Rating
2
Evidence Type
Predictive
Disease
Chronic Myeloid Leukemia
Evidence Direction
Does Not Support
Drug
Axitinib
Evidence Level
D
Clinical Significance
Resistance
Pubmed
25686603
Drugs
Drug NameSensitivitySupported
AxitinibResitance or Non-Reponsefalse