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NM_203447.3(DOCK8):c.3840+3A>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Apr 2, 2018)
Last evaluated:
Dec 9, 2017
Accession:
VCV000226614.1
Variation ID:
226614
Description:
single nucleotide variant
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NM_203447.3(DOCK8):c.3840+3A>G

Allele ID
229691
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p24.3
Genomic location
9: 418210 (GRCh38) GRCh38 UCSC
9: 418210 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.418210A>G
NC_000009.12:g.418210A>G
NM_203447.3:c.3840+3A>G
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.01098 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00923
The Genome Aggregation Database (gnomAD) 0.00849
Trans-Omics for Precision Medicine (TOPMed) 0.00876
The Genome Aggregation Database (gnomAD), exomes 0.00206
1000 Genomes Project 0.01098
Exome Aggregation Consortium (ExAC) 0.00236
Links
dbSNP: rs16938572
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Feb 21, 2013 RCV000213640.1
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000377711.1
Likely benign 1 criteria provided, single submitter Feb 27, 2017 RCV000513764.1
Benign 1 criteria provided, single submitter Dec 9, 2017 RCV000553638.2
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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
337 613

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: SCV000480297.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Feb 27, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000609608.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Feb 21, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000269032.2
Submitted: (Feb 23, 2018)
Evidence details
Comment:
3840+3A>G in intron 30 of DOCK8: This variant is not expected to have clinical significance because it has been identified in 2.7% (119/4406) of African ... (more)
Benign
(Dec 09, 2017)
criteria provided, single submitter
Method: clinical testing
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
Allele origin: germline
Invitae
Accession: SCV000645703.2
Submitted: (Apr 02, 2018)
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 Jun 20, 2019