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NM_003907.3(EIF2B5):c.584G>A (p.Arg195His) AND Vanishing white matter disease

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Nov 11, 2020
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:
RCV000006310.7

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:
Vanishing white matter disease
Synonyms:
CACH syndrome; Childhood ataxia with diffuse central nervous system hypomyelination; Leukoencephalopathy with vanishing white matter; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0800448; MedGen: C1858991; Orphanet: 99853; OMIM: PS603896

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000996325GeneReviews
no classification provided
not providedgermlineliterature only

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

SCV002079140Natera, Inc.
no assertion criteria provided
Pathogenic
(Nov 11, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, 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

Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter.

van der Knaap MS, Fogli A, Boespflug-Tanguy O, Abbink TEM, Schiffmann R.

2003 Feb 20 [updated 2019 Apr 4]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301435

Details of each submission

From GeneReviews, SCV000996325.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Cree founder variant, associated w/severe disease

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

From Natera, Inc., SCV002079140.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024