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
- 71 Childhood B-cell acute lymphocytic leukemia relapse patients had their diagnosis and relapse samples sequenced for NT5C2 mutations. Sequencing revealed an early relapse case with NT5C2 R367Q enriched to a variant allele frequency (VAF) of 25% at relapse and only a VAF of .02% at diagnosis. R367Q could drive clonal outgrowth through the promotion of drug resistance, specifically to thiopurines, which are a staple of ALL maintenance therapy that are administered daily.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7812
- Gene URL
- https://civic.genome.wustl.edu/links/genes/9189
- Variant URL
- https://civic.genome.wustl.edu/links/variants/238
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Childhood Acute Lymphocytic Leukemia
- Evidence Direction
- Supports
- Drug
- Thioguanine,Mercaptopurine
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 23377183
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Mercaptopurine | Resitance or Non-Reponse | true |
| Thioguanine | Resitance or Non-Reponse | true |