NM_020365.5(EIF2B3):c.272G>A (p.Arg91His) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 25, 2018
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:: RCV000498180.2

Allele description [Variation Report for NM_020365.5(EIF2B3):c.272G>A (p.Arg91His)]

NM_020365.5(EIF2B3):c.272G>A (p.Arg91His)

Gene:

EIF2B3:eukaryotic translation initiation factor 2B subunit gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_020365.5(EIF2B3):c.272G>A (p.Arg91His)

HGVS:

NC_000001.11:g.44978337C>T
NG_015864.1:g.13353G>A
NM_001166588.3:c.272G>A
NM_001261418.2:c.272G>A
NM_020365.5:c.272G>AMANE SELECT
NP_001160060.1:p.Arg91His
NP_001248347.1:p.Arg91His
NP_065098.1:p.Arg91His
NC_000001.10:g.45444009C>T
NM_020365.4:c.272G>A

Protein change:

R91H

Links:

dbSNP: rs141988913

NCBI 1000 Genomes Browser:

rs141988913

Molecular consequence:

NM_001166588.3:c.272G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001261418.2:c.272G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_020365.5:c.272G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000589570	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Sep 25, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000589570

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Sep 25, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000589570.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The R91H variant in the EIF2B3 gene has been reported previously in an individual with vanishing white matter disease who was heterozygous for the R91H variant and another disease-causing variant (Robinson et al., 2014). The R91H variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The R91H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret R91H as a likely pathogenic variant.

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

Last Updated: Sep 29, 2024

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