Annotation Detail
Information
- Associated Genes
- NT5C2
- Associated Variants
-
NT5C2 p.Arg375Gln (p.R375Q)
(
ENST00000675985.1,
ENST00000675326.1,
ENST00000674860.1,
ENST00000674696.1,
ENST00000676449.1,
ENST00000404739.8,
ENST00000675645.1,
ENST00000676428.1,
ENST00000343289.9 )
NT5C2 p.Arg375Gln (p.R375Q) ( 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 CUTLL1 T-ALL cell lines expressing NT5C2 mutant proteins (K359Q, R367Q or D407A) observed in relapsed T-ALL patients showed no difference in sensitivity to nelarabine or arabinosylguanine treatment when compared to cells expressing wildtype protein or vector alone.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/633
- Gene URL
- https://civic.genome.wustl.edu/links/genes/9189
- Variant URL
- https://civic.genome.wustl.edu/links/variants/238
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- T-cell Acute Lymphoblastic Leukemia
- Evidence Direction
- Does Not Support
- Drug
- Nelarabine,Arabinosylguanine
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 23377281
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Arabinosylguanine | Resitance or Non-Reponse | false |
| Nelarabine | Resitance or Non-Reponse | false |