NM_001354712.2(THRB):c.1361_1362insC (p.Leu454fs) 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:: RCV000013388.16

Allele description [Variation Report for NM_001354712.2(THRB):c.1361_1362insC (p.Leu454fs)]

NM_001354712.2(THRB):c.1361_1362insC (p.Leu454fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

3p24.2

Genomic location:

Preferred name:

NM_001354712.2(THRB):c.1361_1362insC (p.Leu454fs)

HGVS:

NC_000003.12:g.24122908_24122909insG
NG_009159.1:g.376914_376915insC
NM_000461.5:c.1361_1362insC
NM_001128176.3:c.1361_1362insC
NM_001128177.2:c.1361_1362insC
NM_001252634.2:c.1361_1362insC
NM_001354708.2:c.1361_1362insC
NM_001354709.2:c.1361_1362insC
NM_001354710.2:c.1361_1362insC
NM_001354711.2:c.1361_1362insC
NM_001354712.2:c.1361_1362insCMANE SELECT
NM_001354713.2:c.1361_1362insC
NM_001354714.2:c.1268_1269insC
NM_001354715.2:c.1268_1269insC
NM_001374822.1:c.1361_1362insC
NM_001374823.1:c.1361_1362insC
NM_001374824.1:c.1361_1362insC
NM_001374825.1:c.1361_1362insC
NM_001374826.1:c.1361_1362insC
NM_001374827.1:c.1190_1191insC
NP_000452.2:p.Leu454fs
NP_001121648.1:p.Leu454fs
NP_001121649.1:p.Leu454fs
NP_001239563.1:p.Leu454fs
NP_001341637.1:p.Leu454fs
NP_001341638.1:p.Leu454fs
NP_001341639.1:p.Leu454fs
NP_001341640.1:p.Leu454fs
NP_001341641.1:p.Leu454fs
NP_001341642.1:p.Leu454fs
NP_001341643.1:p.Leu423fs
NP_001341644.1:p.Leu423fs
NP_001361751.1:p.Leu454fs
NP_001361752.1:p.Leu454fs
NP_001361753.1:p.Leu454fs
NP_001361754.1:p.Leu454fs
NP_001361755.1:p.Leu454fs
NP_001361756.1:p.Leu397fs
NC_000003.11:g.24164399_24164400insG

Protein change:

L397fs

Links:

OMIM: 190160.0031

Molecular consequence:

NM_000461.5:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001128176.3:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001128177.2:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001252634.2:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354708.2:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354709.2:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354710.2:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354711.2:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354712.2:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354713.2:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354714.2:c.1268_1269insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354715.2:c.1268_1269insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374822.1:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374823.1:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374824.1:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374825.1:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374826.1:c.1361_1362insC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374827.1:c.1190_1191insC - frameshift variant - [Sequence Ontology: SO:0001589]

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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AbrB/MazE/SpoVT family DNA-binding domain-containing protein [Sulfolobus islandi...
AbrB/MazE/SpoVT family DNA-binding domain-containing protein [Sulfolobus islandicus]
gi|502106152|ref|WP_012710971.1|

Protein
PREDICTED: Rattus norvegicus glycerophosphodiester phosphodiesterase domain cont...
PREDICTED: Rattus norvegicus glycerophosphodiester phosphodiesterase domain containing 4 (Gdpd4), transcript variant X4, mRNA
gi|2678875183|ref|XM_063280971.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033635	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

SCV000033635

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, SCV000033635.1

#	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 by Takeda et al. (1992).

In the nomenclature of Beck-Peccoz et al. (1994), this mutation was referred to as (C1644i)fr.sh.454(stop463) in exon 10.

#	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: Nov 29, 2022

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