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NM_018283.4(NUDT15):c.416G>A (p.Arg139His) AND Thiopurines, poor metabolism of, 2

Germline classification:
drug response (1 submission)
Last evaluated:
Oct 25, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000210847.2

Allele description [Variation Report for NM_018283.4(NUDT15):c.416G>A (p.Arg139His)]

NM_018283.4(NUDT15):c.416G>A (p.Arg139His)

Gene:
NUDT15:nudix hydrolase 15 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
Preferred name:
NM_018283.4(NUDT15):c.416G>A (p.Arg139His)
HGVS:
  • NC_000013.11:g.48045720G>A
  • NG_047021.1:g.13154G>A
  • NM_018283.4:c.416G>AMANE SELECT
  • NP_060753.1:p.Arg139His
  • NC_000013.10:g.48619856G>A
  • NM_018283.1:c.416G>A
  • NM_018283.2:c.416G>A
  • NR_136687.2:n.437G>A
  • NR_136688.2:n.437G>A
  • Q9NV35:p.Arg139His
Protein change:
R139H; ARG139HIS
Links:
Genetic Testing Registry (GTR): GTR000613302; UniProtKB: Q9NV35#VAR_076809; OMIM: 615792.0002; dbSNP: rs147390019
NCBI 1000 Genomes Browser:
rs147390019
Molecular consequence:
  • NM_018283.4:c.416G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136687.2:n.437G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136688.2:n.437G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Thiopurines, poor metabolism of, 2 (THPM2)
Synonyms:
NUDT15 DEFICIENCY
Identifiers:
MedGen: C4225160; OMIM: 616903

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267143OMIM
no assertion criteria provided
drug response
(Oct 25, 2016) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

NUDT15 polymorphisms alter thiopurine metabolism and hematopoietic toxicity.

Moriyama T, Nishii R, Perez-Andreu V, Yang W, Klussmann FA, Zhao X, Lin TN, Hoshitsuki K, Nersting J, Kihira K, Hofmann U, Komada Y, Kato M, McCorkle R, Li L, Koh K, Najera CR, Kham SK, Isobe T, Chen Z, Chiew EK, Bhojwani D, et al.

Nat Genet. 2016 Apr;48(4):367-73. doi: 10.1038/ng.3508. Epub 2016 Feb 15.

PubMed [citation]
PMID:
26878724
PMCID:
PMC5029084

Details of each submission

From OMIM, SCV000267143.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a cohort of children with acute lymphoblastic leukemia, Moriyama et al. (2016) identified a c.416G-A transition in exon 3 of the NUDT15 gene, resulting in an arg139-to-his (R139H) substitution that was associated with poor thiopurine metabolism (THPM2; 616903). In vitro functional expression studies showed that the variant resulted in decreased NUDT15 activity compared to wildtype.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 23, 2024