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NM_016346.3(NR2E3):c.119-2A>C

Variation ID: Help
191059
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_016346.3(NR2E3):c.119-2A>C

Allele ID:
188865
Variant type:
single nucleotide variant
Cytogenetic location:
15q23
Genomic location:
  • Chr15: 71811481 (on Assembly GRCh38)
  • Chr15: 72103821 (on Assembly GRCh37)
Other names:
  • IVS1AS, A-C
HGVS:
  • NG_009113.2:g.5927A>C
  • NM_014249.3:c.119-2A>C
  • NM_016346.3:c.119-2A>C
  • NC_000015.10:g.71811481A>C (GRCh38)
  • NC_000015.9:g.72103821A>C (GRCh37)
  • NM_014249.2:c.119-2A>C
  • NM_016346.2:c.119-2A>C
Links:
NCBI 1000 Genomes Browser:
rs2723341
Molecular consequence:
NM_014249.3:c.119-2A>C: splice acceptor variant [Sequence Ontology SO:0001574]
Allele frequency:
  • 1000 Genomes Project 0.00020 (C)
  • 1000 Genomes Project 0.00020
  • Exome Aggregation Consortium (ExAC) 0.00041
  • The Genome Aggregation Database (gnomAD) 0.00042
  • The Genome Aggregation Database (gnomAD), exomes 0.00051
  • Trans-Omics for Precision Medicine (TOPMed) 0.00046

1 Affected gene

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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
Pathogenic
(May 5, 2017)
criteria provided, single submitter
clinical testinggermline
    ARUP Laboratories, Molecular Genetics and Genomics,ARUP LaboratoriesSCV000604567.1
    Pathogenic
    (Jan 1, 2017)
    criteria provided, single submitter
    clinical testingunknown
      Centre for Mendelian Genomics,University Medical Centre LjubljanaSCV000747622.1
      Pathogenic
      (Jul 12, 2017)
      criteria provided, single submitter
      clinical testingunknownCounsylSCV000792778.1
      Pathogenic
      (Apr 27, 2017)
      criteria provided, single submitter
      clinical testing
      • NR2E3-Related Disorders[MedGen]
      germlineIllumina Clinical Services Laboratory,IlluminaSCV000393757.3
      Pathogenic
      (Aug 31, 2018)
      criteria provided, single submitter
      clinical testinggermline
        GeneDxSCV000565331.4
        Pathogenic
        (Apr 2, 2018)
        criteria provided, single submitter
        clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000860710.1
        Pathogenic
        (Oct 31, 2018)
        criteria provided, single submitter
        clinical testingunknownFulgent GeneticsSCV000894054.1
        Likely pathogenic
        (Jan 1, 2015)
        no assertion criteria providedresearchunknownNIHR Bioresource Rare Diseases,University of CambridgeSCV000599197.1
        Pathogenic
        (Sep 1, 2016)
        no assertion criteria providedclinical testinginherited
          Human Genetics - Radboudumc,Radboudumc
          Study description
          SCV000804666.2
          Pathogenic
          (Apr 1, 2008)
          no assertion criteria providedliterature onlygermlineOMIMSCV000026046.4
          Pathogenic
          (Apr 1, 2008)
          no assertion criteria providedliterature onlygermlineOMIMSCV000026047.4
          Likely pathogenicno assertion criteria provided
          researchgermline
            Developmental Genetics Unit,King Faisal Specialist Hospital & Research CentreSCV000221433.1
            Pathogenic
            (Jun 10, 2015)
            no assertion criteria providedresearchgermlineDivision of Human Genetics,Children's Hospital of Philadelphia - CSER-PediSeqSCV000238470.1
            SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
            Total for all submittersnot provided3germline, inherited, unknownEuropeannot provided
            ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriesnot providednot providedgermlinenot providednot providednot providednot provided
            Centre for Mendelian Genomics,University Medical Centre Ljubljananot providednot providedunknownnot providednot providednot providednot provided
            Counsylnot providednot providedunknownnot providednot providednot provided
            Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centrenot providednot providedgermlinenot providednot providednot providednot provided
            Division of Human Genetics,Children's Hospital of Philadelphianot providednot providedgermlinenot providednot providedThe NR2E3 variant (c.119-2A>C)…Full description
            EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
            Fulgent Geneticsnot providednot providedunknownnot providednot providednot providednot provided
            GeneDxnot providednot providedgermlinenot providednot providednot providedThe c.119-2A>C variant in the …Full description
            Human Genetics - Radboudumc,Radboudumcnot provided1inheritednot providednot providednot providednot provided
            Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedThe NR2E3 c.119-2A>C variant o…Full description
            NIHR Bioresource Rare Diseases,University of Cambridgenot provided1unknownEuropeannot providednot providednot provided
            OMIMnot providednot providedgermlinenot providednot providednot provided
            SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

            Last Updated: May 27, 2019

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