NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter) AND Thyroid dyshormonogenesis 6

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Nov 8, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000490414.2

Allele description [Variation Report for NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter)]

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

Gene:
DUOX2:dual oxidase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q21.1
Genomic location:
Preferred name:
NM_001363711.2(DUOX2):c.2653C>T (p.Arg885Ter)
HGVS:
  • NC_000015.10:g.45103961G>A
  • NG_009447.1:g.15201C>T
  • NM_001363711.2:c.2653C>TMANE SELECT
  • NM_014080.4:c.2653C>T
  • NP_001350640.1:p.Arg885Ter
  • NP_054799.4:p.Arg885Ter
  • NC_000015.9:g.45396159G>A
Protein change:
R885*
Links:
dbSNP: rs199589510
NCBI 1000 Genomes Browser:
rs199589510
Molecular consequence:
  • NM_001363711.2:c.2653C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014080.4:c.2653C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Thyroid dyshormonogenesis 6 (TDH6)
Synonyms:
HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 6; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 6
Identifiers:
MONDO: MONDO:0011792; MedGen: C1846632; Orphanet: 95716; OMIM: 607200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267296Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Centercriteria provided, single submitter
Likely pathogenic
(Mar 18, 2016)
germlinereference population

PubMed (3)
[See all records that cite these PMIDs]

SCV000914682Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Nov 8, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
East Asiangermlineunknown1not providednot providednot providednot providedreference population

Citations

PubMed

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C.

N Engl J Med. 2002 Jul 11;347(2):95-102.

PubMed [citation]
PMID:
12110737

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

Vigone MC, Fugazzola L, Zamproni I, Passoni A, Di Candia S, Chiumello G, Persani L, Weber G.

Hum Mutat. 2005 Oct;26(4):395.

PubMed [citation]
PMID:
16134168
See all PubMed Citations (3)

Details of each submission

From Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center, SCV000267296.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1East Asian1not providednot providedreference population PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Illumina Clinical Services Laboratory,Illumina, SCV000914682.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 performed for the gene, cDNA change, and amino acid. No publications were found based on this search. This variant is not found in the 1000 Genomes Project, the Exome Sequencing Project, Exome Aggregation Consortium, or the Genome Aggregation Database. This variant is reported at a frequency of 0.000174 in the East Asian population from the Genome Aggregation Database. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for congenital hypothyroidism. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 12, 2021

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