Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Leu267Val (p.L267V)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Leu267Val (p.L267V) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- A panel of 18 mutations representing 85% of known mutations seen in imatinib CML patents were used to evaluate the effectiveness of drug binding. All mutations were compared with non-mutated BCR-ABL protein and were grouped according to their anti-proliferative activity. Mutant cell lines that exhibited a greater than 4-fold increase in IC50 value were considered resistant to drug, 2-4 fold increase in IC50 were moderately resistant and less than 2-fold change in IC50 was sensitive to drug treatment. The L248V mutation was moderately resistant to imatinib.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2641
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1022
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 19075254
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | true |