Annotation Detail

Information
Associated Genes
NPM1
Associated Variants
NPM1 p.Trp288CysfsTer12 (p.W288Cfs*12) ( ENST00000679190.1, ENST00000677357.1, ENST00000296930.10, ENST00000351986.10, ENST00000517671.5, ENST00000521672.6, ENST00000676589.1, ENST00000677297.1, ENST00000677325.1, ENST00000677907.1 )
NPM1 p.Trp288CysfsTer12 (p.W288Cfs*12) ( ENST00000296930.10, ENST00000351986.10, ENST00000517671.5, ENST00000521672.6, ENST00000676589.1, ENST00000677297.1, ENST00000677325.1, ENST00000677357.1, ENST00000677907.1, ENST00000679190.1 )
Associated Disease
acute myeloid leukemia
Source Database
CIViC Evidence
Description
NSC348884 induced apoptosis in OPI-AML3 cells harboring an NPM1 mutation.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/152
Gene URL
https://civic.genome.wustl.edu/links/genes/35
Variant URL
https://civic.genome.wustl.edu/links/variants/87
Rating
3
Evidence Type
Predictive
Disease
Acute Myeloid Leukemia
Evidence Direction
Supports
Drug
NSC348884
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
21719597
Drugs
Drug NameSensitivitySupported
NSC348884Sensitivitytrue