NM_003907.3(EIF2B5):c.584G>A (p.Arg195His) AND Leukoencephalopathy with vanishing white matter 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 1, 2002
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:: RCV003221412.1

Allele description [Variation Report for NM_003907.3(EIF2B5):c.584G>A (p.Arg195His)]

NM_003907.3(EIF2B5):c.584G>A (p.Arg195His)

Gene:

EIF2B5:eukaryotic translation initiation factor 2B subunit epsilon [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

Preferred name:

NM_003907.3(EIF2B5):c.584G>A (p.Arg195His)

HGVS:

NC_000003.12:g.184137975G>A
NG_015826.1:g.7954G>A
NM_003907.3:c.584G>AMANE SELECT
NP_003898.2:p.Arg195His
LRG_1278t1:c.584G>A
LRG_1278:g.7954G>A
LRG_1278p1:p.Arg195His
NC_000003.11:g.183855763G>A
NM_003907.2:c.584G>A
Q13144:p.Arg195His

Protein change:

R195H; ARG195HIS

Links:

Genetic Testing Registry (GTR): GTR000226533; UniProtKB: Q13144#VAR_016846; OMIM: 603945.0005; dbSNP: rs113994054

NCBI 1000 Genomes Browser:

rs113994054

Molecular consequence:

NM_003907.3:c.584G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Leukoencephalopathy with vanishing white matter 5 (VWM5)
Synonyms:: Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure
Identifiers:: MONDO: MONDO:0957873; MedGen: C5779973; OMIM: 620315

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026492	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2002)	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

SCV000026492

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2002)

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

Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus.

Fogli A, Wong K, Eymard-Pierre E, Wenger J, Bouffard JP, Goldin E, Black DN, Boespflug-Tanguy O, Schiffmann R.

Ann Neurol. 2002 Oct;52(4):506-10.

PubMed [citation]

PMID:: 12325082

Details of each submission

From OMIM, SCV000026492.3

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

Description

Fogli et al. (2002) studied the EIF2B5 gene in 3 patients of 2 Cree families with Cree leukoencephalopathy (VWM5; 620315) and identified a homozygous G-to-A transition at nucleotide 584, resulting in an arg195-to-his (R195H) substitution. They reported an unpublished observation of the same R195H mutation in a CACH/VWM family from the Highlands in Scotland. The northern Quebec Cree first encountered Europeans in the early 1700s; these were Scottish fur traders from the Hudson Bay Trading Company. Fogli et al. (2002) stated that the probands from the 2 Cree families in their report could trace their paternal ancestry to 3 English Hudson Bay Company employees around 1770.

#	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: Feb 20, 2024

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