NM_000884.3(IMPDH2):c.787C>T (p.Leu263Phe) AND IMPDH2 enzyme activity, variation in

Germline classification:: Affects (1 submission)
Last evaluated:: Apr 1, 2007
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:: RCV000015958.28

Allele description [Variation Report for NM_000884.3(IMPDH2):c.787C>T (p.Leu263Phe)]

NM_000884.3(IMPDH2):c.787C>T (p.Leu263Phe)

Gene:

IMPDH2:inosine monophosphate dehydrogenase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p21.31

Genomic location:

Preferred name:

NM_000884.3(IMPDH2):c.787C>T (p.Leu263Phe)

HGVS:

NC_000003.12:g.49026719G>A
NG_012091.1:g.7724C>T
NM_000884.3:c.787C>TMANE SELECT
NP_000875.2:p.Leu263Phe
NC_000003.11:g.49064152G>A
P12268:p.Leu263Phe

Protein change:

L263F; LEU263PHE

Links:

UniProtKB: P12268#VAR_070542; OMIM: 146691.0001; dbSNP: rs121434586

NCBI 1000 Genomes Browser:

rs121434586

Molecular consequence:

NM_000884.3:c.787C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: IMPDH2 enzyme activity, variation in (IMPDH2V)
Identifiers:: MedGen: C3888196; OMIM: 617995

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000036225	OMIM	no assertion criteria provided	Affects (Apr 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000036225

OMIM

no assertion criteria provided

Affects
(Apr 1, 2007)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

A novel variant L263F in human inosine 5'-monophosphate dehydrogenase 2 is associated with diminished enzyme activity.

Wang J, Zeevi A, Webber S, Girnita DM, Addonizio L, Selby R, Hutchinson IV, Burckart GJ.

Pharmacogenet Genomics. 2007 Apr;17(4):283-90.

PubMed [citation]

PMID:: 17496727

Details of each submission

From OMIM, SCV000036225.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Wang et al. (2007) analyzed the IMPDH2 gene in DNA samples from 152 solid organ transplant patients and identified a 787C-T transition in exon 7 of the IMPDH2 gene, resulting in a leu263-to-phe (L263F) substitution at a highly conserved residue within the alpha helix of the alpha/beta barrel core domain of the protein, which contains the entire machinery for enzyme catalytic activity. Kinetic assay demonstrated that the enzyme activity of the L263F variant was reduced 10-fold compared to wildtype (IMPDH2V; 617995). The authors suggested that this functional variant may contribute to interindividual differences in transplant patient response to treatment with mycophenolate mofetil (MMF), the active metabolite of which (mycophenolic acid) targets IMPDH2.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 29, 2023

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