Annotation Detail

Information
Associated Genes
ABL1
Associated Variants
ABL1 p.Asp295Gly (p.D295G) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.Asp295Gly (p.D295G) ( 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 D276G mutation in the ABL1 portion of the BCR-ABL1 fusion protein was associated with sensitivity to nilotinib treatment (IC50: 2.00-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/2666
Gene URL
https://civic.genome.wustl.edu/links/genes/4
Variant URL
https://civic.genome.wustl.edu/links/variants/1027
Rating
2
Evidence Type
Predictive
Disease
Chronic Myeloid Leukemia
Evidence Direction
Supports
Drug
Nilotinib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
19075254
Drugs
Drug NameSensitivitySupported
NilotinibSensitivitytrue