Annotation Detail

Information
Associated Genes
U2AF1
Associated Variants
U2AF1 p.Gln157Pro (p.Q157P) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 )
U2AF1 p.Gln157Pro (p.Q157P) ( ENST00000291552.9, ENST00000380276.6, ENST00000459639.5 )
Associated Disease
myelodysplastic syndrome
Source Database
CIViC Evidence
Description
After adjusting for age and cancer stage, presence of U2AF mutation such as Q157P/R is prognostic for poorer survival outcomes in patients with MDS.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/400
Gene URL
https://civic.genome.wustl.edu/links/genes/48
Variant URL
https://civic.genome.wustl.edu/links/variants/127
Rating
3
Evidence Type
Prognostic
Disease
Myelodysplastic Syndrome
Evidence Direction
Supports
Evidence Level
B
Clinical Significance
Poor Outcome
Pubmed
23861105
Drugs