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NM_001710.5(CFB):c.95G>A (p.Arg32Gln)

Variation ID: Help
16075
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001710.5(CFB):c.95G>A (p.Arg32Gln)

Allele ID:
31114
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.3
Genomic location:
  • Chr6: 31946403 (on Assembly GRCh38)
  • Chr6: 31914180 (on Assembly GRCh37)
Protein change:
R8Q, R32Q
HGVS:
  • NG_008191.1:g.5460G>A
  • NG_011730.1:g.23915G>A
  • NM_000063.5:c.*315+731G>A
  • NM_001710.5:c.95G>A
  • NP_001701.2:p.Arg32Gln
  • NC_000006.12:g.31946403G>A (GRCh38)
  • LRG_136t1:c.95G>A
  • LRG_26t1:c.*1046G>A
  • NC_000006.11:g.31914180G>A (GRCh37)
  • NM_000063.4:c.*1046G>A
  • P00751:p.Arg32Gln
  • LRG_136p1:p.Arg32Gln
  • LRG_136:g.5460G>A
  • LRG_26:g.23915G>A
Links:
NCBI 1000 Genomes Browser:
rs641153
Molecular consequence:
NM_001710.5:c.95G>A: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.11542 (A)
  • 1000 Genomes Project 0.11542
  • Exome Aggregation Consortium (ExAC) 0.09834
  • The Genome Aggregation Database (gnomAD) 0.11071
  • The Genome Aggregation Database (gnomAD), exomes 0.09575
  • Trans-Omics for Precision Medicine (TOPMed) 0.11988

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
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000462001.2
    Benign
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000462002.2
      Benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000462005.2
        Benign
        (Jun 14, 2016)
        criteria provided, single submitter
        clinical testinggermlineIllumina Clinical Services Laboratory,IlluminaSCV000462006.2
        Likely benign
        (Jun 14, 2016)
        criteria provided, single submitter
        clinical testinggermline
          Illumina Clinical Services Laboratory,IlluminaSCV000484213.2
          Likely benign
          (Jun 14, 2016)
          criteria provided, single submitter
          clinical testinggermline
            Illumina Clinical Services Laboratory,IlluminaSCV000484214.2
            Benign
            (Mar 28, 2016)
            criteria provided, single submitter
            clinical testinggermline
              Laboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000538521.1
              Benign
              (Jan 1, 1994)
              no assertion criteria providedliterature only
              • Factor B fast/slow polymorphism
              germlineOMIMSCV000037725.2
              Benign
              (Oct 30, 2017)
              no assertion criteria providedliterature only
              • BF*FA/S
              germlineOMIMSCV000037726.2
              protective
              (Aug 12, 2016)
              no assertion criteria providedliterature only
              • Age-related macular degeneration 14[MedGen | OMIM]
              germlineOMIMSCV000037730.4
              SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
              Total for all submittersnot providednot providedgermlinenot providednot provided
              Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot provided
              Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinenot providednot providedgermlinenot providednot providednot providedVariant identified in a genomeā€¦Full description
              OMIMnot providednot providedgermlinenot providednot providednot provided
              SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

              Last Updated: Mar 31, 2019

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