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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033610OMIM
no assertion criteria provided
Pathogenic
(May 1, 1994) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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).

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

Last Updated: Aug 5, 2023