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, a Ba/F3 cell line stably expressing the G250E mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with resistance to nilotinib treatment (IC50: 4.56-fold), as compared to Ba/F3 cells expressing BCR-ABL1 fusion protein (reported to be sensitizing to nilotinib). Sensitivity was determined by assessing cell proliferation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2648
- 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
- 19075254
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Nilotinib | Resitance or Non-Reponse | true |