Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Gly269Glu (p.G269E)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Gly269Glu (p.G269E) ( 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 higher incorporation when harboring fusions with the G250E variant of ABL1 compared to fusions with wildtype ABL1 (IC50 of 1295nM vs. 823 nM), indicating resistance.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4320
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1023
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Axitinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 25686603
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Axitinib | Resitance or Non-Reponse | true |