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NM_203447.3(DOCK8):c.663C>A (p.Asp221Glu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Oct 23, 2018)
Last evaluated:
Sep 30, 2018
Accession:
VCV000366546.1
Variation ID:
366546
Description:
single nucleotide variant
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NM_203447.3(DOCK8):c.663C>A (p.Asp221Glu)

Allele ID
308119
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p24.3
Genomic location
9: 312088 (GRCh38) GRCh38 UCSC
9: 312088 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.312088C>A
NC_000009.12:g.312088C>A
NM_203447.3:c.663C>A NP_982272.2:p.Asp221Glu missense
... more HGVS
Protein change
D221E
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00173
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00238
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD), exomes 0.00174
The Genome Aggregation Database (gnomAD) 0.00165
Trans-Omics for Precision Medicine (TOPMed) 0.00153
Links
dbSNP: rs139391329
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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 RCV000349817.1
Benign 1 criteria provided, single submitter Nov 18, 2017 RCV000645178.1
Uncertain significance 1 criteria provided, single submitter Sep 30, 2018 RCV000762543.1
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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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hyper IgE Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000479552.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Nov 18, 2017)
criteria provided, single submitter
Method: clinical testing
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive
Allele origin: germline
Invitae
Accession: SCV000766920.1
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Sep 30, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000892873.1
Submitted: (Oct 23, 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