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
- NPM1 mutation (Type A, W288fs) causes cytoplasmic localization of NPM when transfected into a non-hematopoietic cell line (293T cells). Cytoplasmic localization of NPM in AML patients was associated with good response to induction therapy.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/153
- 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
- Induction Therapy
- Evidence Level
- E
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 15659725
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Induction Therapy | Sensitivity | true |