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NM_001354712.2(THRB):c.1022T>C (p.Leu341Pro) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 6, 2019
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:
RCV001284365.1

Allele description [Variation Report for NM_001354712.2(THRB):c.1022T>C (p.Leu341Pro)]

NM_001354712.2(THRB):c.1022T>C (p.Leu341Pro)

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.1022T>C (p.Leu341Pro)
HGVS:
  • NC_000003.12:g.24127621A>G
  • NG_009159.1:g.372202T>C
  • NM_000461.5:c.1022T>C
  • NM_001128176.3:c.1022T>C
  • NM_001128177.2:c.1022T>C
  • NM_001252634.2:c.1022T>C
  • NM_001354708.2:c.1022T>C
  • NM_001354709.2:c.1022T>C
  • NM_001354710.2:c.1022T>C
  • NM_001354711.2:c.1022T>C
  • NM_001354712.2:c.1022T>CMANE SELECT
  • NM_001354713.2:c.1022T>C
  • NM_001354714.2:c.929T>C
  • NM_001354715.2:c.929T>C
  • NM_001374822.1:c.1022T>C
  • NM_001374823.1:c.1022T>C
  • NM_001374824.1:c.1022T>C
  • NM_001374825.1:c.1022T>C
  • NM_001374826.1:c.1022T>C
  • NM_001374827.1:c.973+49T>C
  • NP_000452.2:p.Leu341Pro
  • NP_001121648.1:p.Leu341Pro
  • NP_001121649.1:p.Leu341Pro
  • NP_001239563.1:p.Leu341Pro
  • NP_001341637.1:p.Leu341Pro
  • NP_001341638.1:p.Leu341Pro
  • NP_001341639.1:p.Leu341Pro
  • NP_001341640.1:p.Leu341Pro
  • NP_001341641.1:p.Leu341Pro
  • NP_001341642.1:p.Leu341Pro
  • NP_001341643.1:p.Leu310Pro
  • NP_001341644.1:p.Leu310Pro
  • NP_001361751.1:p.Leu341Pro
  • NP_001361752.1:p.Leu341Pro
  • NP_001361753.1:p.Leu341Pro
  • NP_001361754.1:p.Leu341Pro
  • NP_001361755.1:p.Leu341Pro
  • NC_000003.11:g.24169112A>G
  • NM_000461.4:c.1022T>C
Protein change:
L310P
Links:
dbSNP: rs2033110557
NCBI 1000 Genomes Browser:
rs2033110557
Molecular consequence:
  • NM_001374827.1:c.973+49T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000461.5:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128176.3:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128177.2:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001252634.2:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354708.2:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354709.2:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354710.2:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354711.2:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354712.2:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354713.2:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354714.2:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354715.2:c.929T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374822.1:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374823.1:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374824.1:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374825.1:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374826.1:c.1022T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001470115Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Dec 6, 2019) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor beta gene.

Rivolta CM, Olcese MC, Belforte FS, Chiesa A, Gruñeiro-Papendieck L, Iorcansky S, Herzovich V, Cassorla F, Gauna A, Gonzalez-Sarmiento R, Targovnik HM.

Mol Cell Probes. 2009 Jun-Aug;23(3-4):148-53. doi: 10.1016/j.mcp.2009.02.002. Epub 2009 Mar 4.

PubMed [citation]
PMID:
19268523

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Concolino P, Costella A, Paragliola RM.

Mol Diagn Ther. 2019 Jun;23(3):353-368. doi: 10.1007/s40291-019-00399-w. Review.

PubMed [citation]
PMID:
30976996
See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470115.1

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

Last Updated: Apr 23, 2022