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NM_000208.3(INSR):c.5C>G (p.Ala2Gly)

Variation ID: Help
193063
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000208.3(INSR):c.5C>G (p.Ala2Gly)

Allele ID:
190228
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
  • Chr19: 7293887 (on Assembly GRCh38)
  • Chr19: 7293898 (on Assembly GRCh37)
Protein change:
A2G
HGVS:
  • NG_008852.2:g.5114C>G
  • NM_000208.3:c.5C>G
  • NP_000199.2:p.Ala2Gly
  • NC_000019.10:g.7293887G>C (GRCh38)
  • NC_000019.9:g.7293898G>C (GRCh37)
  • NM_000208.2:c.5C>G
  • P06213:p.Ala2Gly
Links:
NCBI 1000 Genomes Browser:
rs7508518
Molecular consequence:
NM_000208.3:c.5C>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00000 (G)
  • 1000 Genomes Project 1.00000
  • Exome Aggregation Consortium (ExAC) 1.00000
  • The Genome Aggregation Database (gnomAD) 0.99990
  • The Genome Aggregation Database (gnomAD), exomes 1.00000
  • Trans-Omics for Precision Medicine (TOPMed) 0.99995

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
(May 9, 2018)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000224169.5
Benign
(Jul 23, 2015)
criteria provided, single submitter
clinical testinggermline
    Genetic Services Laboratory, University of ChicagoSCV000247622.1
    Benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000415592.2
      Benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000415593.2
        Benign
        (Jun 14, 2016)
        criteria provided, single submitter
        clinical testing
        • Insulin-resistant diabetes mellitus AND acanthosis nigricans[MedGen | OMIM]
        germline
          Illumina Clinical Services Laboratory,IlluminaSCV000415594.2
          Benign
          (Mar 28, 2016)
          criteria provided, single submitter
          clinical testinggermline
            Laboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000539389.1
            SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
            Total for all submittersnot provided208germlinenot providednot provided
            EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided208germlinenot providednot providednot provided
            Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
            Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
            Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinenot providednot providedgermlinenot providednot providednot providedVariant identified in a genomeā€¦Full description
            SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

            Last Updated: Mar 31, 2019

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