NM_003907.2(EIF2B5):c.1759A>G (p.Ile587Val)

Variation ID: Help
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_003907.2(EIF2B5):c.1759A>G (p.Ile587Val)

Allele ID:
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
  • Chr3: 184143455 (on Assembly GRCh38)
  • Chr3: 183861243 (on Assembly GRCh37)
Protein change:
  • NG_015826.1:g.13434A>G
  • NM_003907.2:c.1759A>G
  • NP_003898.2:p.Ile587Val
  • NC_000003.12:g.184143455A>G (GRCh38)
  • NC_000003.11:g.183861243A>G (GRCh37)
  • Q13144:p.Ile587Val
NCBI 1000 Genomes Browser:
Molecular consequence:
NM_003907.2:c.1759A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • GO-ESP 0.32816 (G)
  • GMAF 0.39000 (G)
  • ExAC 0.34983 (G)

1 Affected gene

Variant frequency in dbGaP Help

NM_003907.2(EIF2B5):c.1759A>G (p.Ile587Val)

GRCh37 Chr3:183861243
Called variantsPotential variants
Sample count5269 of 975522063 of 41047

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

Browser views

Assertion and evidence details


Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
(Nov 6, 2013)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000112249.6
Benigncriteria provided, single submitter
clinical testinggermline
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testing
    • Leukoencephalopathy with vanishing white matter[MedGen | OMIM]
      Illumina Clinical Services Laboratory,IlluminaSCV000442325.2
      Likely benignno assertion criteria providedclinical testing
      • not specified (Autosomal recessive inheritance)[MedGen]
        Genetic Services Laboratory, University of ChicagoSCV000151092.2
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot provided27germlinenot providednot provided
        EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided27germlinenot providednot providednot providednot provided
        Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providedLikely benign based on allele …Full description
        Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
        PreventionGenetics,PreventionGeneticsnot providednot providedgermlinenot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Jun 29, 2017