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

Variation ID: Help
94381
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:
100281
Variant type:
single nucleotide variant
Cytogenetic location:
3q27.1
Genomic location:
  • Chr3: 184143455 (on Assembly GRCh38)
  • Chr3: 183861243 (on Assembly GRCh37)
Protein change:
I587V
HGVS:
  • 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
Links:
NCBI 1000 Genomes Browser:
rs843358
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

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Benign
(Nov 6, 2013)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000112249.6
Benigncriteria provided, single submitter
clinical testinggermline
    PreventionGenetics,PreventionGeneticsSCV000309867.1
    Benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testing
    • Leukoencephalopathy with vanishing white matter[MedGen | OMIM]
    germline
      Illumina Clinical Services Laboratory,IlluminaSCV000442325.2
      Likely benignno assertion criteria providedclinical testing
      • not specified (Autosomal recessive inheritance)[MedGen]
      germline
        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