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NM_000410.3(HFE):c.187C>G (p.His63Asp)

Variation ID: Help
10
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000410.3(HFE):c.187C>G (p.His63Asp)

Allele ID:
15049
Variant type:
single nucleotide variant
Cytogenetic location:
6p22.2
Genomic location:
  • Chr6: 26090951 (on Assembly GRCh38)
  • Chr6: 26091179 (on Assembly GRCh37)
Protein change:
H63D
HGVS:
  • NG_008720.2:g.8671C>G
  • NM_000410.3:c.187C>G
  • NM_139007.2:c.77-363C>G
  • NP_000401.1:p.His63Asp
  • NC_000006.12:g.26090951C>G (GRCh38)
  • LRG_748t1:c.187C>G
  • NC_000006.11:g.26091179C>G (GRCh37)
  • NG_008720.1:g.8671C>G
  • Q30201:p.His63Asp
  • LRG_748p1:p.His63Asp
  • LRG_748:g.8671C>G
  • NG_008720.1:p.His63Asp
Links:
NCBI 1000 Genomes Browser:
rs1799945
Molecular consequence:
  • NM_000410.3:c.187C>G: missense variant SO:0001583
  • NM_139007.2:c.77-363C>G: intron variant SO:0001627
Allele frequency:
  • 1000 Genomes Project 0.07308 (G)
  • 1000 Genomes Project 0.07308
  • Exome Aggregation Consortium (ExAC) 0.10660
  • The Genome Aggregation Database (gnomAD) 0.09848
  • The Genome Aggregation Database (gnomAD), exomes 0.10954
  • Trans-Omics for Precision Medicine (TOPMed) 0.10116

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
(Nov 14, 2016)
criteria provided, single submitter
clinical testing
  • Hemochromatosis type 1 (Autosomal recessive inheritance)[MedGen | OMIM]
germlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000198337.4
Pathogenic
(Nov 26, 2015)
criteria provided, single submitter
clinical testinggermline
    Blueprint GeneticsSCV000206973.2
    Pathogenic
    (Jul 10, 2018)
    criteria provided, single submitter
    clinical testinggermlineInvitae,SCV000219176.3
    other
    (Jun 26, 2018)
    criteria provided, single submitter
    clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000227124.5
    Pathogenic
    (Jan 27, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Knight Diagnostic Laboratories,Oregon Health and Sciences University - CSER-NextGenSCV000223933.2
      Pathogenic
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermlineIllumina Clinical Services Laboratory,IlluminaSCV000461883.2
      Pathogenic
      (Sep 13, 2017)
      criteria provided, single submitter
      clinical testinggermline
        GeneDxSCV000577565.3
        Pathogenic
        (Dec 21, 2015)
        criteria provided, single submitter
        clinical testingunknownCounsylSCV000678027.1
        Pathogenic
        (Sep 14, 2015)
        criteria provided, single submitter
        clinical testinggermline
          Genetic Services Laboratory, University of ChicagoSCV000693430.2
          Pathogenic
          (May 2, 2018)
          no assertion criteria providedliterature onlygermlineOMIMSCV000020169.4
          risk factor
          (Sep 1, 2008)
          no assertion criteria providedliterature only
          • Microvascular complications of diabetes 7[MedGen | OMIM]
          germlineOMIMSCV000020170.4
          Pathogenic
          (Sep 17, 2015)
          no assertion criteria providedliterature onlygermlineGeneReviewsSCV000245789.1
          not providedno assertion providedphenotyping onlyunknown
            GenomeConnect, ClinGenSCV000607203.1
            not providedno assertion providedphenotyping onlyunknown
              GenomeConnect, ClinGenSCV000607317.1
              SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
              Total for all submitters36394germline, unknownnot providednot provided
              Blueprint Geneticsnot provided9germlinenot providednot providednot providednot provided
              Counsylnot providednot providedunknownnot providednot providednot provided
              EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided348germlinenot providednot providedVariant classified as "other r…Full description
              GeneDxnot providednot providedgermlinenot providednot providednot providedThe H63D variant in the HFE ge…Full description
              GeneReviewsnot providednot providedgermlinenot providednot providednot provided
              Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
              GenomeConnect, ClinGennot providednot providedunknownnot providednot providednot providedGenomeConnect assertions are r…Full description
              Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedThe c.187C>G (p.His63Asp) vari…Full description
              Invitae,not providednot providedgermlinenot providednot providedThis sequence change replaces …Full description
              Knight Diagnostic Laboratories,Oregon Health and Sciences Universitynot providednot providedgermlinenot providednot providednot providedThe c.187C>G (p.His63Asp) miss…Full description
              Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine3637germlinenot providednot providedThe p.His63Asp variant in HFE …Full description
              OMIMnot providednot providedgermlinenot providednot providednot provided
              SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

              Last Updated: Jan 14, 2019

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