NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala) AND Thyroid dyshormonogenesis 6

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 13, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001170071.1

Allele description [Variation Report for NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala)]

NM_001363711.2(DUOX2):c.1310G>C (p.Gly437Ala)

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.1310G>C (p.Gly437Ala)

HGVS:

NC_000015.10:g.45108877C>G
NG_009447.1:g.10285G>C
NM_001363711.2:c.1310G>CMANE SELECT
NM_014080.5:c.1310G>C
NP_001350640.1:p.Gly437Ala
NP_054799.4:p.Gly437Ala
NP_054799.4:p.Gly437Ala
NC_000015.9:g.45401075C>G
NC_000015.9:g.45401075C>G
NM_014080.4:c.1310G>C

Protein change:

G437A

Links:

dbSNP: rs769796932

NCBI 1000 Genomes Browser:

rs769796932

Molecular consequence:

NM_001363711.2:c.1310G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_014080.5:c.1310G>C - missense variant - [Sequence Ontology: SO:0001583]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001250672	Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University	no assertion criteria provided	Likely pathogenic (May 13, 2020)	paternal	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001250672

Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

no assertion criteria provided

Likely pathogenic
(May 13, 2020)

paternal

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
South East Asian	paternal	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, SCV001250672.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	South East Asian	1	not provided	not provided	research	not provided

Description

Allele frequency in in-house Thai database (910 alleles) MAF= 0.0010989, Multiple lines of computational evidence support as deleterious and damaging

Description

The patient showed classical presentation of congenital primary hypothyroidism.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Feb 7, 2023

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