NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)

Variation ID: Help
9
Review status: Help
criteria provided, conflicting interpretations1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity, association, other, risk factor
Benign(1);Pathogenic(10);Uncertain significance(1)
Last evaluated:
May 26, 2017
Number of submission(s):
18
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)

Allele ID:
15048
Variant type:
single nucleotide variant
Cytogenetic location:
6p22.2
Genomic location:
  • Chr6: 26092913 (on Assembly GRCh38)
  • Chr6: 26093141 (on Assembly GRCh37)
Protein change:
C282Y
HGVS:
  • NG_008720.2:g.10633G>A
  • NM_000410.3:c.845G>A
  • NM_139011.2:c.77-206G>A
  • NP_000401.1:p.Cys282Tyr
  • NC_000006.12:g.26092913G>A (GRCh38)
  • LRG_748t1:c.845G>A
  • NC_000006.11:g.26093141G>A (GRCh37)
  • NG_008720.1:g.10633G>A
  • Q30201:p.Cys282Tyr
  • LRG_748p1:p.Cys282Tyr
  • LRG_748:g.10633G>A
  • NG_008720.1:p.Cys282Tyr
Links:
NCBI 1000 Genomes Browser:
rs1800562
Molecular consequence:
  • NM_000410.3:c.845G>A: missense variant SO:0001583
  • NM_139011.2:c.77-206G>A: intron variant SO:0001627
Allele frequency:
  • GO-ESP 0.04752 (A)
  • GMAF 0.01260 (A)
  • ExAC 0.03243 (A)

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
Benign
(Nov 4, 2013)
criteria provided, single submitter
clinical testing
  • not specified (Autosomal recessive inheritance)[MedGen]
germline
    Genetic Services Laboratory, University of ChicagoSCV000151394.1
    Pathogenic
    (Nov 26, 2015)
    criteria provided, single submitter
    clinical testinggermline
      Blueprint GeneticsSCV000206975.2
      Pathogenic
      (Jan 18, 2017)
      criteria provided, single submitter
      clinical testinggermline
        InvitaeSCV000219175.2
        Pathogenic
        (Mar 24, 2014)
        criteria provided, single submitter
        clinical testing
        • Hemochromatosis type 1 (Autosomal recessive inheritance)[MedGen | OMIM]
        germlineLaboratory for Molecular Medicine,Partners HealthCare Personalized Medicine - CSER-MedSeqSCV000221190.2
        other
        (Sep 8, 2015)
        criteria provided, single submitter
        clinical testinggermline
          EGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000230091.3
          Pathogenic
          (Mar 30, 2016)
          criteria provided, single submitter
          clinical testinggermline
            Knight Diagnostic Laboratories,Oregon Health and Sciences University - CSER-NextGenSCV000223934.2
            Pathogenic
            (Dec 1, 2015)
            criteria provided, single submitter
            clinical testing
            • Hereditary cancer-predisposing syndrome[MedGen]
            germline
              Vantari GeneticsSCV000267038.1
              Pathogenic
              (May 26, 2017)
              criteria provided, single submitter
              clinical testinggermline
                GeneDxSCV000329362.4
                Pathogenic
                (Jun 14, 2016)
                criteria provided, single submitter
                clinical testinggermlineIllumina Clinical Services Laboratory,IlluminaSCV000461887.2
                Uncertain significance
                (Apr 12, 2014)
                criteria provided, single submitter
                clinical testingunknown
                  Centre for Mendelian Genomics,University Medical Centre Ljubljana
                  Study description
                  SCV000493004.1
                  Pathogenic
                  (Sep 17, 2015)
                  no assertion criteria providedliterature onlygermlineGeneReviewsSCV000245793.1
                  Pathogenic
                  (Jan 1, 2009)
                  no assertion criteria providedliterature onlygermlineOMIMSCV000020162.5
                  risk factor
                  (Jan 1, 2009)
                  no assertion criteria providedliterature only
                  • Porphyria cutanea tarda, susceptibility to
                  germlineOMIMSCV000020163.5
                  risk factor
                  (Jan 1, 2009)
                  no assertion criteria providedliterature only
                  • Porphyria variegata, susceptibility to
                  germlineOMIMSCV000020164.5
                  Pathogenic
                  (Jan 1, 2009)
                  no assertion criteria providedliterature only
                  • Hemochromatosis, juvenile, digenic[MedGen]
                  germlineOMIMSCV000020165.5
                  risk factor
                  (Jan 1, 2009)
                  no assertion criteria providedliterature only
                  • Alzheimer disease, susceptibility to
                  germlineOMIMSCV000020166.5
                  association
                  (Jan 1, 2009)
                  no assertion criteria providedliterature only
                  • Transferrin serum level quantitative trait locus 2[MedGen | OMIM]
                  germlineOMIMSCV000020167.5
                  risk factor
                  (Jan 1, 2009)
                  no assertion criteria providedliterature only
                  • Microvascular complications of diabetes 7[MedGen | OMIM]
                  germlineOMIMSCV000020168.5
                  SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
                  Total for all submitters10104germline, unknownnot providednot provided
                  Blueprint Geneticsnot provided15germlinenot providednot providednot providednot provided
                  Centre for Mendelian Genomics,University Medical Centre Ljubljananot providednot providedunknownnot providednot providednot providednot provided
                  EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided79germlinenot providednot providednot provided"Variant classified as "other …Full description
                  GeneDxnot providednot providedgermlinenot providednot providednot providedThe C282Y variant in the HFE g…Full description
                  GeneReviewsnot providednot providedgermlinenot providednot providednot provided
                  Genetic Services Laboratory, University of Chicagonot providednot providedgermlinenot providednot providednot providednot provided
                  Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providedThe c.845G>A (p.Cys282Tyr) var…Full description
                  Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
                  Knight Diagnostic Laboratories,Oregon Health and Sciences Universitynot providednot providedgermlinenot providednot providednot providedThe c.845G>A (p.Cys282Tyr) mis…Full description
                  Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine1010germlinenot providednot providedThe Cys282Tyr variant in HFE i…Full description
                  OMIMnot providednot providedgermlinenot providednot providednot provided
                  Vantari Geneticsnot providednot providedgermlinenot providednot providednot providednot provided
                  SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

                  Last Updated: Sep 15, 2017