NM_003235.5(TG):c.48G>A (p.Trp16Ter) AND Iodotyrosyl coupling defect

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 14, 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:: RCV001170075.2

Allele description [Variation Report for NM_003235.5(TG):c.48G>A (p.Trp16Ter)]

NM_003235.5(TG):c.48G>A (p.Trp16Ter)

Gene:

TG:thyroglobulin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.22

Genomic location:

Preferred name:

NM_003235.5(TG):c.48G>A (p.Trp16Ter)

HGVS:

NC_000008.11:g.132867048G>A
NG_015832.1:g.5089G>A
NM_003235.5:c.48G>AMANE SELECT
NP_003226.4:p.Trp16Ter
NC_000008.10:g.133879293G>A
NM_003235.4:c.48G>A

Protein change:

W16*

Links:

dbSNP: rs780846892

NCBI 1000 Genomes Browser:

rs780846892

Molecular consequence:

NM_003235.5:c.48G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Iodotyrosyl coupling defect (TDH3)
Synonyms:: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3; THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3
Identifiers:: MONDO: MONDO:0010135; MedGen: C0342194; Orphanet: 95716; OMIM: 274700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001250735	Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University	no assertion criteria provided	Pathogenic (May 14, 2020)	maternal	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001250735

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

no assertion criteria provided

Pathogenic
(May 14, 2020)

maternal

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
South East Asian	maternal	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, SCV001250735.2

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

Description

Absence in in-house Thai database (910 alleles), null variant (nonsense) in a gene where LOF is a known mechanism of disease.

Description

The patient showed classical presentation of congenital primary hypothyroidism with goitre.

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

Last Updated: Apr 13, 2025

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