Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Glu472Ala (p.E472A)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Glu472Ala (p.E472A) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- In a study of 39 chronic phase CML patients with BCR-ABL variants, E453A was seen in a single imatinib-resistant patient that was also resistant or intolerant to dasatinib and/or nilotinib treatment. Nine patients in this study had multiple kinase domain mutations, but it was not indicated when mutations were co-occurring.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6980
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1536
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Imatinib Mesylate
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 22371878
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib Mesylate | Resitance or Non-Reponse | true |