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NM_203447.3(DOCK8):c.3813A>G (p.Lys1271=)

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

Interpretation Help

Clinical significance:
Conflicting interpretations of pathogenicity
Benign(1);Likely benign(1);Uncertain significance(1)
Last evaluated:
Aug 11, 2017
Number of submission(s):
See supporting ClinVar records

Allele(s) Help

NM_203447.3(DOCK8):c.3813A>G (p.Lys1271=)

Allele ID:
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
  • Chr9: 418180 (on Assembly GRCh38)
  • Chr9: 418180 (on Assembly GRCh37)
  • NG_017007.1:g.208316A>G
  • NM_203447.3:c.3813A>G
  • NP_982272.2:p.Lys1271=
  • NC_000009.12:g.418180A>G (GRCh38)
  • LRG_196t1:c.3813A>G
  • NC_000009.11:g.418180A>G (GRCh37)
  • LRG_196p1:p.Lys1271=
  • LRG_196:g.208316A>G
NCBI 1000 Genomes Browser:
Molecular consequence:
NM_203447.3:c.3813A>G: synonymous variant [Sequence Ontology SO:0001819]
Allele frequency:
  • 1000 Genomes Project 0.00100 (G)
  • 1000 Genomes Project 0.00100
  • Exome Aggregation Consortium (ExAC) 0.00038
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00177
  • The Genome Aggregation Database (gnomAD) 0.00116
  • The Genome Aggregation Database (gnomAD), exomes 0.00024
  • Trans-Omics for Precision Medicine (TOPMed) 0.00122

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details


Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
clinical testinggermline
    Illumina Clinical Services Laboratory,IlluminaSCV000480296.2
    Likely benign
    (Sep 26, 2016)
    criteria provided, single submitter
    clinical testinggermline
      (Aug 11, 2017)
      criteria provided, single submitter
      clinical testing
      • Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive[MedGen | Orphanet | OMIM]
        SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
        Total for all submittersnot providednot providedgermlinenot providednot provided
        GeneDxnot providednot providedgermlinenot providednot providednot providedThis variant is considered likā€¦Full description
        Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
        Invitaenot providednot providedgermlinenot providednot providednot providednot provided
        SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

        Last Updated: Mar 31, 2019

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