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NM_203447.3(DOCK8):c.5296C>T (p.Arg1766Trp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 29, 2018)
Last evaluated:
Apr 16, 2018
Accession:
VCV000367025.1
Variation ID:
367025
Description:
single nucleotide variant
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NM_203447.3(DOCK8):c.5296C>T (p.Arg1766Trp)

Allele ID
318846
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p24.3
Genomic location
9: 441358 (GRCh38) GRCh38 UCSC
9: 441358 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.441358C>T
NC_000009.12:g.441358C>T
NM_001190458.2:c.4996C>T NP_001177387.1:p.Arg1666Trp missense
... more HGVS
Protein change
R1766W
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00022
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Exome Aggregation Consortium (ExAC) 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00016
Links
ClinGen: CA4959385
dbSNP: rs201776049
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000375603.1
Uncertain significance 1 criteria provided, single submitter Apr 16, 2018 RCV000547350.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DOCK8 - - GRCh38
GRCh37
567 913

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hyper IgE Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000480334.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Apr 16, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
Allele origin: germline
Invitae
Accession: SCV000645711.3
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with tryptophan at codon 1766 of the DOCK8 protein (p.Arg1766Trp). The arginine residue is moderately conserved and there is a ... (more)

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Jan 10, 2020