Annotation Detail

Information
Associated Genes
U2AF1
Associated Variants
U2AF1 p.Ser34Phe (p.S34F) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 )
U2AF1 p.Ser34Phe (p.S34F) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 )
Associated Disease
acute myeloid leukemia
Source Database
CIViC Evidence
Description
Age, sex, FAB subtype and karyotypes were not statistically significant between AML patients with U2AF S34Y/F mutations and those who harbor wild type U2AF.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/218
Gene URL
https://civic.genome.wustl.edu/links/genes/48
Variant URL
https://civic.genome.wustl.edu/links/variants/128
Rating
3
Evidence Type
Diagnostic
Disease
Acute Myeloid Leukemia
Evidence Direction
Does Not Support
Evidence Level
B
Clinical Significance
Positive
Pubmed
23029227
Drugs