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
- childhood acute lymphocytic leukemia
- Source Database
- CIViC Evidence
- Description
- Lentiviral-mediated overexpression of NT5C2 R367Q in Reh cells resulted in significant resistance against thiopurines (mercaptopurine and thioguanine) versus wildtype and GFP controls, as indicated by reduced apoptosis. Compared to controls, overexpression cells also displayed reduced intercellular thioguanoside nucleotides after 24 hours of drug exposure, as measured by HPLC. Additionally, recombinant protein expression of R367Q led to increased 5’ nucleotidase activity.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7862
- 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
- Childhood Acute Lymphocytic Leukemia
- Evidence Direction
- Supports
- Drug
- Thioguanine,Mercaptopurine
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 23377183
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Mercaptopurine | Resitance or Non-Reponse | true |
| Thioguanine | Resitance or Non-Reponse | true |