Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Met263Val (p.M263V)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Met263Val (p.M263V) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- One chronic myeloid leukemia patient in chronic phase had no response to imatinib. Bacterial clones generated using peripheral blood RNA later revealed the BCR-ABL1 fusion with the M244V secondary variant in 12/12 clones.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7825
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1021
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 16775234
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | true |