NM_001354712.2(THRB):c.1020G>C (p.Gln340His) AND Thyroid hormone resistance, generalized, autosomal dominant

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:: RCV000013363.23

Allele description [Variation Report for NM_001354712.2(THRB):c.1020G>C (p.Gln340His)]

NM_001354712.2(THRB):c.1020G>C (p.Gln340His)

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.1020G>C (p.Gln340His)

HGVS:

NC_000003.12:g.24127623C>G
NG_009159.1:g.372200G>C
NM_000461.5:c.1020G>C
NM_001128176.3:c.1020G>C
NM_001128177.2:c.1020G>C
NM_001252634.2:c.1020G>C
NM_001354708.2:c.1020G>C
NM_001354709.2:c.1020G>C
NM_001354710.2:c.1020G>C
NM_001354711.2:c.1020G>C
NM_001354712.2:c.1020G>CMANE SELECT
NM_001354713.2:c.1020G>C
NM_001354714.2:c.927G>C
NM_001354715.2:c.927G>C
NP_000452.2:p.Gln340His
NP_001121648.1:p.Gln340His
NP_001121649.1:p.Gln340His
NP_001239563.1:p.Gln340His
NP_001341637.1:p.Gln340His
NP_001341638.1:p.Gln340His
NP_001341639.1:p.Gln340His
NP_001341640.1:p.Gln340His
NP_001341641.1:p.Gln340His
NP_001341642.1:p.Gln340His
NP_001341643.1:p.Gln309His
NP_001341644.1:p.Gln309His
NC_000003.11:g.24169114C>G
P10828:p.Gln340His

Protein change:

Q309H; GLN340HIS

Links:

UniProtKB: P10828#VAR_004641; OMIM: 190160.0004; dbSNP: rs121918688

NCBI 1000 Genomes Browser:

rs121918688

Molecular consequence:

NM_000461.5:c.1020G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128176.3:c.1020G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128177.2:c.1020G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001252634.2:c.1020G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354708.2:c.1020G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354709.2:c.1020G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354710.2:c.1020G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354711.2:c.1020G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354712.2:c.1020G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354713.2:c.1020G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354714.2:c.927G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354715.2:c.927G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Thyroid hormone resistance, generalized, autosomal dominant (GRTHD)
Synonyms:: HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES
Identifiers:: MONDO: MONDO:0008569; MedGen: C2937288; OMIM: 188570

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033610	OMIM	no assertion criteria provided	Pathogenic (May 1, 1994)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 1846005, 8013151

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033610

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

A new point mutation in the 3,5,3'-triiodothyronine-binding domain of the c-erbA beta thyroid hormone receptor is tightly linked to generalized thyroid hormone resistance.

Usala SJ, Menke JB, Watson TL, Bérard WE, Bradley C, Bale AE, Lash RW, Weintraub BD.

J Clin Endocrinol Metab. 1991 Jan;72(1):32-8.

PubMed [citation]

PMID:: 1846005

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, SCV000033610.2

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

Description

In 10 affected members of a family known as 'kindred D,' in which generalized thyroid hormone resistance segregated as an autosomal dominant trait (GRTHD; 188570), Usala et al. (1991) identified heterozygosity for a 1305G-C transversion in the THRB gene, resulting in gln335-to-his (GLN335HIS) substitution. The mutation was not found in 6 unaffected family members.

This mutation is designated gln340-to-his (Q340H) according to the revised numbering system of Beck-Peccoz et al. (1994).

#	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: Aug 5, 2023

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