NM_014239.3(EIF2B2):c.638A>G (p.Glu213Gly) AND Ovarioleukodystrophy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 4, 2013
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:: RCV000004584.1

Allele description

NM_014239.3(EIF2B2):c.638A>G (p.Glu213Gly)

Gene:

EIF2B2:eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa [Gene - OMIM]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.3

Genomic location:

Preferred name:

NM_014239.3(EIF2B2):c.638A>G (p.Glu213Gly)

HGVS:

NC_000014.9:g.75005906A>G
NG_013333.1:g.7998A>G
NM_014239.3:c.638A>G
NP_055054.1:p.Glu213Gly
NC_000014.8:g.75472609A>G
NM_014239.2:c.638A>G

Protein change:

E213G; GLU213GLY

Links:

OMIM: 606454.0001; dbSNP: rs104894425

NCBI 1000 Genomes Browser:

rs104894425

Molecular consequence:

NM_014239.3:c.638A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Ovarioleukodystrophy
Identifiers:: MedGen: C1847967

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024758	OMIM	no assertion criteria provided	Pathogenic (Mar 4, 2013)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 11704758, 12707859

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024758

OMIM

no assertion criteria provided

Pathogenic
(Mar 4, 2013)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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

Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter.

Leegwater PA, Vermeulen G, Könst AA, Naidu S, Mulders J, Visser A, Kersbergen P, Mobach D, Fonds D, van Berkel CG, Lemmers RJ, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS.

Nat Genet. 2001 Dec;29(4):383-8.

PubMed [citation]

PMID:: 11704758

Ovarian failure related to eukaryotic initiation factor 2B mutations.

Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O.

Am J Hum Genet. 2003 Jun;72(6):1544-50. Epub 2003 Apr 21.

PubMed [citation]

PMID:: 12707859
PMCID:: PMC1180314

Details of each submission

From OMIM, SCV000024758.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In 2 distantly related individuals with VWM (603896), Leegwater et al. (2001) found homozygosity for an glu213-to-gly (E213G) mutation in the EIF2B2 gene. Heterozygosity for the same mutation was found in a patient in the United State who shared a part of the haplotype on 14q24 with the homozygous patients observed in Europe, suggesting a familial relationship. The second mutation predicted a V316D amino acid substitution (606454.0002). The Dutch patients with VWM due to the mutation in EIF2B2 came from the southern part of the Netherlands rather than the eastern part, where the patients with the T91A mutation in the EIF2B5 gene (603945.0001) lived.

Fogli et al. (2003) identified the E213G mutation in compound heterozygous state with arg183 to ter (606454.0003) in a patient with ovarioleukodystrophy (603896).

#	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 1, 2015

ClinVar

Relating variation to medicine