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NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Feb 1, 2019)
Last evaluated:
Nov 8, 2018
Accession:
VCV000225343.2
Variation ID:
225343
Description:
single nucleotide variant
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NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter)

Allele ID
227367
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 45103961 (GRCh38) GRCh38 UCSC
15: 45396159 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.45103961G>A
NC_000015.9:g.45396159G>A
NM_001363711.2:c.2653C>T MANE Select NP_001350640.1:p.Arg885Ter nonsense
... more HGVS
Protein change
R885*
Other names
-
Canonical SPDI
NC_000015.10:45103960:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00006
1000 Genomes Project 0.00020
Links
dbSNP: rs199589510
ClinGen: CA7538198
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 8, 2018 RCV000490414.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DUOX2 - - GRCh38
GRCh37
330 354

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 18, 2016)
criteria provided, single submitter
Method: reference population
Thyroid dyshormonogenesis 6
Allele origin: germline
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center
Accession: SCV000267296.1
Submitted: (Apr 14, 2016)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Nov 08, 2018)
criteria provided, single submitter
Method: clinical testing
Thyroid dyshormonogenesis 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000914682.1
Submitted: (Feb 01, 2019)
Evidence details
Comment:
The DUOX2 c.2653C>T (p.Arg885Ter) variant is a stop-gained variant that is predicted to result in a premature termination/elongation of the protein. A literature search was … (more)

Functional evidence

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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

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Title Author Journal Year Link
Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. Vigone MC Human mutation 2005 PMID: 16134168
Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. Moreno JC The New England journal of medicine 2002 PMID: 12110737

Text-mined citations for rs199589510...

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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 Apr 08, 2021