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 an in vitro study, stochastic mutations were introduced into the ABL1 region of a stably expressed p210 BCR-ABL fusion in Ba/F3 cells using N-ethyl-N-nitrosourea mutagenesis. Resulting clones were grown in a range of tyrosine kinase inhibitor concentrations to identify resistance mutations. The G250E mutation was associated with resistance in 2 μM imatinib (3 clone recovered, ~2%), 4 μM imatinib (1 clone recovered, ~0.74%), and 50 nM nilotinib (5 clone, ~11%). In a review of 20 publications, this mutation was previously described in imatinib resistant patients.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6267
- 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
- Nilotinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 16772610
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Nilotinib | Resitance or Non-Reponse | true |