NM_001354712.2(THRB):c.1034G>A (p.Gly345Asp) AND Generalized resistance to thyroid hormone

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 1994
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:: RCV000013371.23

Allele description [Variation Report for NM_001354712.2(THRB):c.1034G>A (p.Gly345Asp)]

NM_001354712.2(THRB):c.1034G>A (p.Gly345Asp)

Gene:

THRB:thyroid hormone receptor beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p24.2

Genomic location:

Preferred name:

NM_001354712.2(THRB):c.1034G>A (p.Gly345Asp)

HGVS:

NC_000003.12:g.24127609C>T
NG_009159.1:g.372214G>A
NM_000461.5:c.1034G>A
NM_001128176.3:c.1034G>A
NM_001128177.2:c.1034G>A
NM_001252634.2:c.1034G>A
NM_001354708.2:c.1034G>A
NM_001354709.2:c.1034G>A
NM_001354710.2:c.1034G>A
NM_001354711.2:c.1034G>A
NM_001354712.2:c.1034G>AMANE SELECT
NM_001354713.2:c.1034G>A
NM_001354714.2:c.941G>A
NM_001354715.2:c.941G>A
NP_000452.2:p.Gly345Asp
NP_001121648.1:p.Gly345Asp
NP_001121649.1:p.Gly345Asp
NP_001239563.1:p.Gly345Asp
NP_001341637.1:p.Gly345Asp
NP_001341638.1:p.Gly345Asp
NP_001341639.1:p.Gly345Asp
NP_001341640.1:p.Gly345Asp
NP_001341641.1:p.Gly345Asp
NP_001341642.1:p.Gly345Asp
NP_001341643.1:p.Gly314Asp
NP_001341644.1:p.Gly314Asp
NC_000003.11:g.24169100C>T

Protein change:

G314D; GLY345ASP

Links:

OMIM: 190160.0029; dbSNP: rs28999970

NCBI 1000 Genomes Browser:

rs28999970

Molecular consequence:

NM_000461.5:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128176.3:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001128177.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001252634.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354708.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354709.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354710.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354711.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354712.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354713.2:c.1034G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354714.2:c.941G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001354715.2:c.941G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Generalized resistance to thyroid hormone
Synonyms:: Thyroid hormone receptor BETA; Impaired sensitivity to thyroid hormone; Generalized thyroid hormone resistance
Identifiers:: MONDO: MONDO:0009043; MedGen: C4722330; Human Phenotype Ontology: HP:0002930

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033618	OMIM	no assertion criteria provided	Pathogenic (May 1, 1994)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1548332, 8013151

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033618

OMIM

no assertion criteria provided

Pathogenic
(May 1, 1994)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Rapid localization of mutations in the thyroid hormone receptor-beta gene by denaturing gradient gel electrophoresis in 18 families with thyroid hormone resistance.

Takeda K, Weiss RE, Refetoff S.

J Clin Endocrinol Metab. 1992 Apr;74(4):712-9.

PubMed [citation]

PMID:: 1548332

Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK.

Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD.

Clin Endocrinol (Oxf). 1994 May;40(5):697-700. No abstract available.

PubMed [citation]

PMID:: 8013151

Details of each submission

From OMIM, SCV000033618.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

This mutation was described as GLY340ASP by Takeda et al. (1992).

In the nomenclature of Beck-Peccoz et al. (1994), this mutation was designated G345D in exon 7.

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

Last Updated: Apr 23, 2022

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