Annotation Detail
Information
- Associated Genes
- NT5C2
- Associated Variants
-
NT5C2 p.Asp415Ala (p.D415A)
(
ENST00000676428.1,
ENST00000674860.1,
ENST00000676449.1,
ENST00000343289.9,
ENST00000675985.1,
ENST00000674696.1,
ENST00000675326.1,
ENST00000675645.1,
ENST00000404739.8 )
NT5C2 p.Asp415Ala (p.D415A) ( ENST00000343289.9, ENST00000404739.8, ENST00000674696.1, ENST00000674860.1, ENST00000675326.1, ENST00000675645.1, ENST00000675985.1, ENST00000676428.1, ENST00000676449.1 ) - Associated Disease
- T-cell acute lymphoblastic leukemia
- Source Database
- CIViC Evidence
- Description
- CCRF-CEM and to a lesser extent CUTLL1 T-ALL cell lines expressing the NT5C2 D407A mutation had increased resistance to 6-mercaptopurine and 6-thioguanine treatment than cells expressing wildtype NT5C2. Consistent with this, isolated mutant proteins also showed increased enzyme activity compared to wildtype protein.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/632
- Gene URL
- https://civic.genome.wustl.edu/links/genes/9189
- Variant URL
- https://civic.genome.wustl.edu/links/variants/240
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- T-cell Acute Lymphoblastic Leukemia
- Evidence Direction
- Supports
- Drug
- Mercaptopurine,Thioguanine
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 23377281
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Mercaptopurine | Resitance or Non-Reponse | true |
| Thioguanine | Resitance or Non-Reponse | true |