Annotation Detail

Information
Associated Genes
ABL1
Associated Variants
ABL1 p.Val318Leu (p.V318L) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Val318Leu (p.V318L) ( 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 decreased incorporation when harboring fusions with the V299L variant of ABL1 compared to fusions with wildtype ABL1 (IC50 of 188nM vs. 823 nM), indicating V299L induces sensitivity compared to BCR-ABL1 without secondary variants.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7767
Gene URL
https://civic.genome.wustl.edu/links/genes/4
Variant URL
https://civic.genome.wustl.edu/links/variants/1231
Rating
2
Evidence Type
Predictive
Disease
Chronic Myeloid Leukemia
Evidence Direction
Supports
Drug
Axitinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
25686603
Drugs
Drug NameSensitivitySupported
AxitinibSensitivitytrue