NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe) AND Vanishing white matter disease

Germline classification:: Pathogenic (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000175759.7

Allele description [Variation Report for NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)]

NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)

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.318A>T (p.Leu106Phe)

HGVS:

NC_000003.12:g.184136734A>T
NG_015826.1:g.6713A>T
NM_003907.3:c.318A>TMANE SELECT
NP_003898.2:p.Leu106Phe
LRG_1278t1:c.318A>T
LRG_1278:g.6713A>T
LRG_1278p1:p.Leu106Phe
NC_000003.11:g.183854522A>T
NM_003907.2:c.318A>T
Q13144:p.Leu106Phe

Protein change:

L106F

Links:

UniProtKB: Q13144#VAR_012324; dbSNP: rs113994048

NCBI 1000 Genomes Browser:

rs113994048

Molecular consequence:

NM_003907.3:c.318A>T - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000807242	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	unknown	clinical testing	PubMed (2) [See all records that cite these PMIDs] 25741868, 25326635

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000807242

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

unknown

clinical testing

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, et al.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

PubMed [citation]

PMID:: 25326635
PMCID:: PMC4326249

Details of each submission

From Baylor Genetics, SCV000807242.3

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

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

Last Updated: Feb 20, 2024

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