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NM_203447.3(DOCK8):c.4107C>G (p.Leu1369=)

Variation ID: Help
178769
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_203447.3(DOCK8):c.4107C>G (p.Leu1369=)

Allele ID:
175111
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.3
Genomic location:
  • Chr9: 421032 (on Assembly GRCh38)
  • Chr9: 421032 (on Assembly GRCh37)
HGVS:
  • NG_017007.1:g.211168C>G
  • NM_203447.3:c.4107C>G
  • NP_982272.2:p.Leu1369=
  • NC_000009.12:g.421032C>G (GRCh38)
  • LRG_196t1:c.4107C>G
  • NC_000009.11:g.421032C>G (GRCh37)
  • LRG_196p1:p.Leu1369=
  • LRG_196:g.211168C>G
Links:
NCBI 1000 Genomes Browser:
rs2297079
Molecular consequence:
NM_203447.3:c.4107C>G: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • 1000 Genomes Project 0.39177 (G)
  • 1000 Genomes Project 0.39177
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.46263
  • The Genome Aggregation Database (gnomAD) 0.44906
  • The Genome Aggregation Database (gnomAD), exomes 0.50860
  • Trans-Omics for Precision Medicine (TOPMed) 0.44887

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
(Feb 21, 2013)
criteria provided, single submitter
clinical testinggermline
    Laboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000205232.4
    Benign
    (Aug 25, 2015)
    criteria provided, single submitter
    clinical testing
    • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive[MedGen | Orphanet | OMIM]
    germlineOxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation TrustSCV000257464.1
    Benigncriteria provided, single submitter
    clinical testinggermline
      PreventionGenetics,PreventionGeneticsSCV000317175.1
      Benign
      (Jun 14, 2016)
      criteria provided, single submitter
      clinical testinggermline
        Illumina Clinical Services Laboratory,IlluminaSCV000480299.2
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submitters4652germlinenot providednot provided
        Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
        Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine4649germlinenot providednot providednot providedLeu1369Leu in exon 32 of DOCK8…Full description
        Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trustnot provided3germlinenot providednot providednot provided
        PreventionGenetics,PreventionGeneticsnot providednot providedgermlinenot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Mar 31, 2019

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