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NM_001354712.2(THRB):c.1010_1012del (p.Thr337del) 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:
RCV000013366.17

Allele description [Variation Report for NM_001354712.2(THRB):c.1010_1012del (p.Thr337del)]

NM_001354712.2(THRB):c.1010_1012del (p.Thr337del)

Gene:
THRB:thyroid hormone receptor beta [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3p24.2
Genomic location:
Preferred name:
NM_001354712.2(THRB):c.1010_1012del (p.Thr337del)
HGVS:
  • NC_000003.12:g.24127631_24127633del
  • NG_009159.1:g.372190_372192del
  • NM_000461.5:c.1010_1012del
  • NM_001128176.3:c.1010_1012del
  • NM_001128177.2:c.1010_1012del
  • NM_001252634.2:c.1010_1012del
  • NM_001354708.2:c.1010_1012del
  • NM_001354709.2:c.1010_1012del
  • NM_001354710.2:c.1010_1012del
  • NM_001354711.2:c.1010_1012del
  • NM_001354712.2:c.1010_1012delMANE SELECT
  • NM_001354713.2:c.1010_1012del
  • NM_001354714.2:c.917_919del
  • NM_001354715.2:c.917_919del
  • NP_000452.2:p.Thr337del
  • NP_001121648.1:p.Thr337del
  • NP_001121649.1:p.Thr337del
  • NP_001239563.1:p.Thr337del
  • NP_001341637.1:p.Thr337del
  • NP_001341638.1:p.Thr337del
  • NP_001341639.1:p.Thr337del
  • NP_001341640.1:p.Thr337del
  • NP_001341641.1:p.Thr337del
  • NP_001341642.1:p.Thr337del
  • NP_001341643.1:p.Thr306del
  • NP_001341644.1:p.Thr306del
  • NC_000003.11:g.24169122_24169124del
  • NM_000461.4:c.1010_1012del
Protein change:
T306del; THR337DEL
Links:
OMIM: 190160.0005; dbSNP: rs387906515
NCBI 1000 Genomes Browser:
rs387906515
Molecular consequence:
  • NM_000461.5:c.1010_1012del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001128176.3:c.1010_1012del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001128177.2:c.1010_1012del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001252634.2:c.1010_1012del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354708.2:c.1010_1012del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354709.2:c.1010_1012del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354710.2:c.1010_1012del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354711.2:c.1010_1012del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354712.2:c.1010_1012del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354713.2:c.1010_1012del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354714.2:c.917_919del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001354715.2:c.917_919del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000033613OMIM
no assertion criteria provided
Pathogenic
(May 1, 1994) 		germlineliterature only

PubMed (3)
[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 homozygous deletion in the c-erbA beta thyroid hormone receptor gene in a patient with generalized thyroid hormone resistance: isolation and characterization of the mutant receptor.

Usala SJ, Menke JB, Watson TL, Wondisford FE, Weintraub BD, Bérard J, Bradley WE, Ono S, Mueller OT, Bercu BB.

Mol Endocrinol. 1991 Mar;5(3):327-35.

PubMed [citation]
PMID:
1653889

Homozygosity for a dominant negative thyroid hormone receptor gene responsible for generalized resistance to thyroid hormone.

Ono S, Schwartz ID, Mueller OT, Root AW, Usala SJ, Bercu BB.

J Clin Endocrinol Metab. 1991 Nov;73(5):990-4.

PubMed [citation]
PMID:
1682340
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000033613.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Usala et al. (1991) reported a 3-bp deletion in the T(3)-binding domain of the beta-receptor in kindred S with generalized thyroid hormone resistance. The proband was the product of a consanguineous union of 2 heterozygotes and was homozygous for the defect. The deletion of nucleotides 1295-1297 (CAC) resulted in the deduced loss of amino acid residue threonine at codon 332 (THR332DEL). The heterozygotes displayed elevated free T(4) levels and inappropriately normal thyroid-stimulating hormone levels characteristic of other kindreds with dominant GRTH (GRTHD; 188570). However, the proband with autosomal recessive GRTH (GRTHR; 274300) had markedly elevated TSH and free T(4) levels, and displayed profound abnormalities in brain development and linear growth. The findings in this family demonstrated the effects in man of both the heterozygous and the homozygous expression of a dominant-negative mutation. The clinical features of the homozygote were described by Ono et al. (1991). He was born of first-cousin parents, both of whom were heterozygotes for GRTH. His clinical status suggested tissue-specific hyperthyroidism and hypothyroidism. He had delayed growth and skeletal maturation and developmental delay but showed tachycardia. There were laboratory signs of profound pituitary resistance to thyroid hormone.

In the nomenclature of Beck-Peccoz et al. (1994), this mutation involved deletion of amino acid 337 (thr337) encoded by exon 9.

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

Last Updated: Aug 5, 2023