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NM_203447.3(DOCK8):c.2739C>T (p.Ser913=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 14, 2019)
Last evaluated:
Feb 28, 2019
Accession:
VCV000366927.2
Variation ID:
366927
Description:
single nucleotide variant
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NM_203447.3(DOCK8):c.2739C>T (p.Ser913=)

Allele ID
312858
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p24.3
Genomic location
9: 382646 (GRCh38) GRCh38 UCSC
9: 382646 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.382646C>T
NC_000009.12:g.382646C>T
NM_001190458.2:c.2535C>T NP_001177387.1:p.Ser845= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.01118 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01016
1000 Genomes Project 0.01118
Trans-Omics for Precision Medicine (TOPMed) 0.01163
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01084
Links
ClinGen: CA4958303
dbSNP: rs116523732
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000348057.1
Benign 1 criteria provided, single submitter Feb 28, 2019 RCV000557001.3
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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
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hyper IgE Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000480216.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Feb 28, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000645689.3
Submitted: (Mar 14, 2019)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Dec 17, 2019