Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Gln271His (p.Q271H)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Gln271His (p.Q271H) ( 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 Q252H mutation was associated with resistance to 4 μM and 16 μM imatinib (4 clones [~3%] and 1 clone [~3%] recovered, respectively) as well as 10 nM dasatinib (1 clone [~2%]). No clones recovered at 2 μM/8 μM imatinib or 5 nM dasatinib. 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/6245
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1024
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Imatinib Mesylate
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 16772610
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib Mesylate | Resitance or Non-Reponse | true |