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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000589570GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))
Likely pathogenic
(Sep 25, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000589570.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot 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.

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

Last Updated: Sep 29, 2024