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NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu) AND Thyroid hormone resistance, generalized, autosomal dominant

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 7, 2015
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:
RCV000013373.24

Allele description [Variation Report for NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu)]

NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu)

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.1040G>A (p.Gly347Glu)
HGVS:
  • NC_000003.12:g.24127603C>T
  • NG_009159.1:g.372220G>A
  • NM_000461.5:c.1040G>A
  • NM_001128176.3:c.1040G>A
  • NM_001128177.2:c.1040G>A
  • NM_001252634.2:c.1040G>A
  • NM_001354708.2:c.1040G>A
  • NM_001354709.2:c.1040G>A
  • NM_001354710.2:c.1040G>A
  • NM_001354711.2:c.1040G>A
  • NM_001354712.2:c.1040G>AMANE SELECT
  • NM_001354713.2:c.1040G>A
  • NM_001354714.2:c.947G>A
  • NM_001354715.2:c.947G>A
  • NP_000452.2:p.Gly347Glu
  • NP_001121648.1:p.Gly347Glu
  • NP_001121649.1:p.Gly347Glu
  • NP_001239563.1:p.Gly347Glu
  • NP_001341637.1:p.Gly347Glu
  • NP_001341638.1:p.Gly347Glu
  • NP_001341639.1:p.Gly347Glu
  • NP_001341640.1:p.Gly347Glu
  • NP_001341641.1:p.Gly347Glu
  • NP_001341642.1:p.Gly347Glu
  • NP_001341643.1:p.Gly316Glu
  • NP_001341644.1:p.Gly316Glu
  • NC_000003.11:g.24169094C>T
  • NM_001252634.1:c.1040G>A
  • P10828:p.Gly347Glu
Protein change:
G316E; GLY347GLU
Links:
UniProtKB: P10828#VAR_004646; OMIM: 190160.0009; dbSNP: rs28999971
NCBI 1000 Genomes Browser:
rs28999971
Molecular consequence:
  • NM_000461.5:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128176.3:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128177.2:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001252634.2:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354708.2:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354709.2:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354710.2:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354711.2:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354712.2:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354713.2:c.1040G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354714.2:c.947G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354715.2:c.947G>A - 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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000033620OMIM
no assertion criteria provided
Pathogenic
(May 1, 1994)
germlineliterature only

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

SCV000692425Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital
no assertion criteria provided
Pathogenic
(May 7, 2015)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Characterization of seven novel mutations of the c-erbA beta gene in unrelated kindreds with generalized thyroid hormone resistance. Evidence for two "hot spot" regions of the ligand binding domain.

Parrilla R, Mixson AJ, McPherson JA, McClaskey JH, Weintraub BD.

J Clin Invest. 1991 Dec;88(6):2123-30.

PubMed [citation]
PMID:
1661299
PMCID:
PMC295818

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, SCV000033620.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In kindred N-N with generalized thyroid hormone resistance (GRTHD; 188570), Parrilla et al. (1991) found a G-to-A transition at nucleotide 1325 of exon 9 in the THRB gene, resulting in substitution of glutamic acid for glycine-342 (GLY342GLU). This mutation was found in 4 individuals in 2 generations of a family, including a father-son combination.

In accordance with the new nomenclature of Beck-Peccoz et al. (1994), this mutation was designated G347E (gly347 to glu).

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

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000692425.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023