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NM_001354712.2(THRB):c.1058T>C (p.Ile353Thr) AND Thyroid hormone resistance, generalized, autosomal dominant

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 7, 2022
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:
RCV004018042.1

Allele description [Variation Report for NM_001354712.2(THRB):c.1058T>C (p.Ile353Thr)]

NM_001354712.2(THRB):c.1058T>C (p.Ile353Thr)

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.1058T>C (p.Ile353Thr)
HGVS:
  • NC_000003.12:g.24127585A>G
  • NG_009159.1:g.372238T>C
  • NM_000461.5:c.1058T>C
  • NM_001128176.3:c.1058T>C
  • NM_001128177.2:c.1058T>C
  • NM_001252634.2:c.1058T>C
  • NM_001354708.2:c.1058T>C
  • NM_001354709.2:c.1058T>C
  • NM_001354710.2:c.1058T>C
  • NM_001354711.2:c.1058T>C
  • NM_001354712.2:c.1058T>CMANE SELECT
  • NM_001354713.2:c.1058T>C
  • NM_001354714.2:c.965T>C
  • NM_001354715.2:c.965T>C
  • NM_001374822.1:c.1058T>C
  • NM_001374823.1:c.1058T>C
  • NM_001374824.1:c.1058T>C
  • NM_001374825.1:c.1058T>C
  • NM_001374826.1:c.1058T>C
  • NM_001374827.1:c.973+85T>C
  • NP_000452.2:p.Ile353Thr
  • NP_001121648.1:p.Ile353Thr
  • NP_001121649.1:p.Ile353Thr
  • NP_001239563.1:p.Ile353Thr
  • NP_001341637.1:p.Ile353Thr
  • NP_001341638.1:p.Ile353Thr
  • NP_001341639.1:p.Ile353Thr
  • NP_001341640.1:p.Ile353Thr
  • NP_001341641.1:p.Ile353Thr
  • NP_001341642.1:p.Ile353Thr
  • NP_001341643.1:p.Ile322Thr
  • NP_001341644.1:p.Ile322Thr
  • NP_001361751.1:p.Ile353Thr
  • NP_001361752.1:p.Ile353Thr
  • NP_001361753.1:p.Ile353Thr
  • NP_001361754.1:p.Ile353Thr
  • NP_001361755.1:p.Ile353Thr
  • NC_000003.11:g.24169076A>G
Protein change:
I322T
Molecular consequence:
  • NM_001374827.1:c.973+85T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000461.5:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128176.3:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128177.2:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001252634.2:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354708.2:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354709.2:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354710.2:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354711.2:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354712.2:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354713.2:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354714.2:c.965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354715.2:c.965T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374822.1:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374823.1:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374824.1:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374825.1:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374826.1:c.1058T>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
SCV004847231Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Aug 7, 2022) 		unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH.

J Med Genet. 2006 Jun;43(6):527-30. Epub 2005 Oct 19.

PubMed [citation]
PMID:
16236810
PMCID:
PMC2564538
See all PubMed Citations (3)

Details of each submission

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV004847231.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot provideddiscoverynot providednot providednot providednot provided

Last Updated: May 7, 2024