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NM_000208.3(INSR):c.3193C>G (p.Leu1065Val)

Variation ID: Help
194702
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000208.3(INSR):c.3193C>G (p.Leu1065Val)

Allele ID:
191865
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
  • Chr19: 7125348 (on Assembly GRCh38)
  • Chr19: 7125359 (on Assembly GRCh37)
Protein change:
L1065V
HGVS:
  • NG_008852.2:g.173653C>G
  • NM_000208.3:c.3193C>G
  • NP_000199.2:p.Leu1065Val
  • NC_000019.10:g.7125348G>C (GRCh38)
  • NC_000019.9:g.7125359G>C (GRCh37)
  • NM_000208.2:c.3193C>G
  • P06213:p.Leu1065Val
Links:
NCBI 1000 Genomes Browser:
rs56395521
Molecular consequence:
NM_000208.3:c.3193C>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.00020 (C)
  • 1000 Genomes Project 0.00020
  • Exome Aggregation Consortium (ExAC) 0.00022
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
  • The Genome Aggregation Database (gnomAD) 0.00026
  • The Genome Aggregation Database (gnomAD), exomes 0.00030
  • Trans-Omics for Precision Medicine (TOPMed) 0.00037

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
Uncertain significance
(Mar 20, 2015)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000226562.5
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000415453.2
    Likely benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000415454.2
      Likely benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testing
      • Insulin-resistant diabetes mellitus AND acanthosis nigricans[MedGen | OMIM]
      germline
        Illumina Clinical Services Laboratory,IlluminaSCV000415455.2
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot provided2germlinenot providednot provided
        EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided2germlinenot providednot providednot provided
        Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Mar 31, 2019

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