Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.His415Pro (p.H415P)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.His415Pro (p.H415P) ( 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 lower incorporation when harboring fusions with the H396P variant of ABL1 compared to those with wildtype ABL1 (IC50 of 683nM vs. 823 nM), indicating the H396P variant 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/7770
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1531
- 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 Name | Sensitivity | Supported |
|---|---|---|
| Axitinib | Resitance or Non-Reponse | false |