Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000360.4(TH):c.684G>A (p.Glu228=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jul 4, 2021)
Last evaluated:
Jun 1, 2021
Accession:
VCV000242255.8
Variation ID:
242255
Description:
single nucleotide variant
Help

NM_000360.4(TH):c.684G>A (p.Glu228=)

Allele ID
241073
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.5
Genomic location
11: 2167446 (GRCh38) GRCh38 UCSC
11: 2188676 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.2167446C>T
NC_000011.9:g.2188676C>T
NG_008128.1:g.9360G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:2167445:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (T)

Allele frequency
1000 Genomes Project 0.00120
Exome Aggregation Consortium (ExAC) 0.00872
The Genome Aggregation Database (gnomAD) 0.00529
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00545
Trans-Omics for Precision Medicine (TOPMed) 0.00777
The Genome Aggregation Database (gnomAD), exomes 0.00559
Links
ClinGen: CA5818538
dbSNP: rs11564716
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 29, 2017 RCV000362807.3
Benign/Likely benign 4 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000339212.7
Likely benign 1 criteria provided, single submitter Jun 1, 2021 RCV001532622.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TH - - GRCh38
GRCh37
491 535

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 24, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000342333.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Autosomal recessive DOPA responsive dystonia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000369919.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Autosomal recessive DOPA responsive dystonia
Allele origin: germline
Invitae
Accession: SCV000291898.7
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Dec 29, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000724033.1
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)
Likely benign
(Sep 21, 2015)
criteria provided, single submitter
Method: clinical testing
Autosomal recessive DOPA responsive dystonia
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000745019.1
Submitted: (Apr 09, 2018)
Evidence details
Likely benign
(Jun 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001748266.1
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
Autosomal recessive DOPA responsive dystonia
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV000733019.1
Submitted: (Apr 04, 2018)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TH - - - -

Text-mined citations for rs11564716...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 07, 2021