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NM_025114.3(CEP290):c.853-12_853-11insG

Variation ID: Help
166839
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_025114.3(CEP290):c.853-12_853-11insG

Allele ID:
177574
Variant type:
Insertion
Cytogenetic location:
12q21.32
Genomic location:
  • Chr12: 88129046 - 88129047 (on Assembly GRCh38)
  • Chr12: 88522823 - 88522824 (on Assembly GRCh37)
HGVS:
  • NG_008417.1:g.18170_18171insG
  • NM_025114.3:c.853-12_853-11insG
  • NC_000012.12:g.88129046_88129047insC (GRCh38)
  • NC_000012.11:g.88522823_88522824insC (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs71082425
Molecular consequence:
NM_025114.3:c.853-12_853-11insG: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.87360
  • Exome Aggregation Consortium (ExAC) 0.92839
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.87054
  • The Genome Aggregation Database (gnomAD) 0.88993
  • Trans-Omics for Precision Medicine (TOPMed) 0.87422

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
Benign
(Jan 27, 2015)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000202422.7
Benigncriteria provided, single submitter
clinical testinggermline
    PreventionGenetics,PreventionGeneticsSCV000314576.1
    Benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000381622.2
      Benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000381623.2
        Benign
        (Jun 14, 2016)
        criteria provided, single submitter
        clinical testinggermline
          Illumina Clinical Services Laboratory,IlluminaSCV000381624.2
          Benign
          (Jun 14, 2016)
          criteria provided, single submitter
          clinical testinggermline
            Illumina Clinical Services Laboratory,IlluminaSCV000381625.2
            Benign
            (Jun 14, 2016)
            criteria provided, single submitter
            clinical testinggermline
              Illumina Clinical Services Laboratory,IlluminaSCV000381626.2
              Benign
              (Mar 18, 2018)
              criteria provided, single submitter
              clinical testinggermline
                GeneDxSCV000714545.1
                SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
                Total for all submittersnot provided4germlinenot providednot provided
                EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided4germlinenot providednot providednot provided
                GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered likā€¦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: Mar 31, 2019

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