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NM_203447.3(DOCK8):c.2916C>T (p.Thr972=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 21, 2019)
Last evaluated:
Jun 14, 2016
Accession:
VCV000137141.1
Variation ID:
137141
Description:
single nucleotide variant
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NM_203447.3(DOCK8):c.2916C>T (p.Thr972=)

Allele ID
140844
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9p24.3
Genomic location
9: 390512 (GRCh38) GRCh38 UCSC
9: 390512 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.390512C>T
NC_000009.12:g.390512C>T
NM_001190458.2:c.2616C>T NP_001177387.1:p.Thr872= synonymous
... more HGVS
Protein change
-
Other names
p.T904T:ACC>ACT
Functional consequence
-
Global minor allele frequency (GMAF)
0.25499 (T)

Allele frequency
1000 Genomes Project 0.25499
Exome Aggregation Consortium (ExAC) 0.23444
Trans-Omics for Precision Medicine (TOPMed) 0.27032
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.28502
Links
ClinGen: CA182977
dbSNP: rs2297075
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Sep 27, 2013 RCV000155529.3
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000379965.1
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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
567 913

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000317173.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hyper IgE Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000480251.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Sep 27, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168209.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
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: SCV000205228.4
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Thr972Thr in exon 24 of DOCK8: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue ... (more)

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 Jan 18, 2020