NM_001354712.2(THRB):c.938T>C (p.Met313Thr) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 21, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001800808.2

Allele description [Variation Report for NM_001354712.2(THRB):c.938T>C (p.Met313Thr)]

NM_001354712.2(THRB):c.938T>C (p.Met313Thr)

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.938T>C (p.Met313Thr)

HGVS:

NC_000003.12:g.24127705A>G
NG_009159.1:g.372118T>C
NM_000461.5:c.938T>C
NM_001128176.3:c.938T>C
NM_001128177.2:c.938T>C
NM_001252634.2:c.938T>C
NM_001354708.2:c.938T>C
NM_001354709.2:c.938T>C
NM_001354710.2:c.938T>C
NM_001354711.2:c.938T>C
NM_001354712.2:c.938T>CMANE SELECT
NM_001354713.2:c.938T>C
NM_001354714.2:c.845T>C
NM_001354715.2:c.845T>C
NP_000452.2:p.Met313Thr
NP_001121648.1:p.Met313Thr
NP_001121649.1:p.Met313Thr
NP_001239563.1:p.Met313Thr
NP_001341637.1:p.Met313Thr
NP_001341638.1:p.Met313Thr
NP_001341639.1:p.Met313Thr
NP_001341640.1:p.Met313Thr
NP_001341641.1:p.Met313Thr
NP_001341642.1:p.Met313Thr
NP_001341643.1:p.Met282Thr
NP_001341644.1:p.Met282Thr
NC_000003.11:g.24169196A>G
NM_000461.4:c.938T>C
NM_001252634.1:c.938T>C

Protein change:

M282T

Links:

dbSNP: rs1553611083

NCBI 1000 Genomes Browser:

rs1553611083

Molecular consequence:

NM_000461.5:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128176.3:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001128177.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001252634.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354708.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354709.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354710.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354711.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354712.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354713.2:c.938T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354714.2:c.845T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001354715.2:c.845T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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hypothetical protein AOQ84DRAFT_441627 [Glonium stellatum]
hypothetical protein AOQ84DRAFT_441627 [Glonium stellatum]
gi|1046798260|gb|OCL05167.1||gnl|WG O|AOQ84DRAFT_441627

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002047284	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Pathogenic (Dec 21, 2020)	unknown	clinical testing	PubMed (8) [See all records that cite these PMIDs] 8786093, 21795843, 11704998, 9086569, 12201835, 18363280, 9001191, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002047284

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Pathogenic
(Dec 21, 2020)

unknown

clinical testing

PubMed (8)
[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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A novel missense mutation in the thyroid hormone receptor beta gene in a kindred with resistance to thyroid hormone.

Kijima H, Kubo M, Ishizuka T, Kakinuma M, Koike T.

Hum Genet. 1996 Mar;97(3):407-8.

PubMed [citation]

PMID:: 8786093

Pathogenic mechanism of mutations in the thyroid hormone receptor β gene.

Pongjantarasatian S, Wacharasindhu S, Tongkobpetch S, Suphapeetiporn K, Shotelersuk V.

J Endocrinol Invest. 2012 Jun;35(6):557-61. doi: 10.3275/7876. Epub 2011 Jul 27.

PubMed [citation]

PMID:: 21795843

See all PubMed Citations (8)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002047284.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (8)

Description

This variant has been reported to cause general resistance to thyroid hormone in individuals and families in the published literature (PMID 8786093 (1996), 9001191 (1996), and 12201835 (2002)). In addition, it has been described in de novo patients and functional studies have indicated T3-dependent transactivation activity is affected by this variant (PMID 9086569 (1997) and 21795843 (2012)). Based on the available information, this variant is classified as pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jan 6, 2024

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