NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys) AND Leukoencephalopathy with vanishing white matter 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 1, 2003
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:: RCV003221414.8

Allele description [Variation Report for NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys)]

NM_003907.3(EIF2B5):c.583C>T (p.Arg195Cys)

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.583C>T (p.Arg195Cys)

HGVS:

NC_000003.12:g.184137974C>T
NG_015826.1:g.7953C>T
NM_003907.3:c.583C>TMANE SELECT
NP_003898.2:p.Arg195Cys
LRG_1278t1:c.583C>T
LRG_1278:g.7953C>T
LRG_1278p1:p.Arg195Cys
NC_000003.11:g.183855762C>T
Q13144:p.Arg195Cys

Protein change:

R195C; ARG195CYS

Links:

UniProtKB: Q13144#VAR_016845; OMIM: 603945.0007; dbSNP: rs113994055

NCBI 1000 Genomes Browser:

rs113994055

Molecular consequence:

NM_003907.3:c.583C>T - 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
SCV000026494	OMIM	no assertion criteria provided	Pathogenic (Jun 1, 2003)	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

SCV000026494

OMIM

no assertion criteria provided

Pathogenic
(Jun 1, 2003)

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

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, SCV000026494.3

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

Description

In a patient with VWM and ovarian failure (VWM5; 620315) with early-onset secondary amenorrhea, Fogli et al. (2003) found compound heterozygosity for the arg113-to-his mutation (R113H; 603945.0004) and an arg195-to-cys (R195C) mutation in the EIF2B5 gene. The R195C mutation resulted from a C-to-T transition at nucleotide 583. The authors noted that the R195C mutation involved the same codon as that mutated in Cree leukoencephalopathy, which is caused by homozygosity for arg195 to his (R195H; 603945.0005).

#	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: Nov 3, 2024

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