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NM_014249.3(NR2E3):c.932G>A (p.Arg311Gln)

Variation ID: Help
5532
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_014249.3(NR2E3):c.932G>A (p.Arg311Gln)

Allele ID:
20571
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
  • Chr15: 71813573 (on Assembly GRCh38)
  • Chr15: 72105913 (on Assembly GRCh37)
Protein change:
R311Q
HGVS:
  • NG_009113.2:g.8019G>A
  • NM_014249.3:c.932G>A
  • NM_016346.3:c.932G>A
  • NP_055064.1:p.Arg311Gln
  • NP_057430.1:p.Arg311Gln
  • NC_000015.10:g.71813573G>A (GRCh38)
  • NC_000015.9:g.72105913G>A (GRCh37)
  • NG_009113.1:g.8020G>A
  • NM_014249.2:c.932G>A
  • Q9Y5X4:p.Arg311Gln
Links:
NCBI 1000 Genomes Browser:
rs28937873
Molecular consequence:
NM_014249.3:c.932G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00080 (A)
  • 1000 Genomes Project 0.00080
  • Exome Aggregation Consortium (ExAC) 0.00034
  • The Genome Aggregation Database (gnomAD) 0.00076
  • The Genome Aggregation Database (gnomAD), exomes 0.00040
  • Trans-Omics for Precision Medicine (TOPMed) 0.00016

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Sep 8, 2017)
criteria provided, single submitter
clinical testing
  • NR2E3-Related Disorders[MedGen]
germlineIllumina Clinical Services Laboratory,IlluminaSCV000393797.3
Pathogenic
(Jun 27, 2018)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000618198.2
    Pathogenic
    (Jul 5, 2017)
    criteria provided, single submitter
    clinical testingunknownCounsylSCV000792632.1
    Pathogenic
    (Oct 31, 2018)
    criteria provided, single submitter
    clinical testingunknownFulgent GeneticsSCV000894055.1
    Pathogenic
    (Apr 1, 2008)
    no assertion criteria providedliterature onlygermlineOMIMSCV000026051.4
    Pathogenic
    (Apr 1, 2008)
    no assertion criteria providedliterature only
    • Goldmann-Favre syndrome[MedGen]
    germlineOMIMSCV000026052.4
    Likely pathogenicno assertion criteria provided
    researchgermline
      Developmental Genetics Unit,King Faisal Specialist Hospital & Research CentreSCV000221437.1
      Likely pathogenic
      (Dec 30, 2017)
      no assertion criteria providedcurationunknownDepartment of Genetics,Sultan Qaboos University Hospital, OmanSCV000891646.1
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermline, unknownnot providedMiddle East
      Counsylnot providednot providedunknownnot providednot providednot provided
      Department of Genetics,Sultan Qaboos University Hospital, Omannot providednot providedunknownnot providedMiddle Eastnot provided
      Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centrenot providednot providedgermlinenot providednot providednot providednot provided
      Fulgent Geneticsnot providednot providedunknownnot providednot providednot providednot provided
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe c.932 G>A variant in the N…Full description
      Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedThe NR2E3 c.932G>A (p.Arg311Gl…Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: May 24, 2019

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