Annotation Detail

Information
Associated Genes
ABL1
Associated Variants
ABL1 p.His415Arg (p.H415R) ( ENST00000318560.6, ENST00000372348.9 )
ABL1 p.His415Arg (p.H415R) ( ENST00000318560.6, ENST00000372348.9 )
Associated Disease
chronic myeloid leukemia
Source Database
CIViC Evidence
Description
Prior to dasatinib treatment, one imatinib-resistant patient with chronic myeloid leukemia in chronic phase had the BCR-ABL1 fusion with H396R and E355G variants in 9/11 and 1/11 clones, respectively. Clones were generated using peripheral blood RNA. The patient had no best cytogenetic and complete best hematologic responses to dasatinib which were comparable to responses in patients with unmutated BCR-ABL1.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7823
Gene URL
https://civic.genome.wustl.edu/links/genes/4
Variant URL
https://civic.genome.wustl.edu/links/variants/1030
Rating
3
Evidence Type
Predictive
Disease
Chronic Myeloid Leukemia
Evidence Direction
Does Not Support
Drug
Dasatinib
Evidence Level
C
Clinical Significance
Resistance
Pubmed
16775234
Drugs
Drug NameSensitivitySupported
DasatinibResitance or Non-Reponsefalse