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NM_001354712.2(THRB):c.1354C>T (p.Pro452Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 2024
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:
RCV003987991.1

Allele description [Variation Report for NM_001354712.2(THRB):c.1354C>T (p.Pro452Ser)]

NM_001354712.2(THRB):c.1354C>T (p.Pro452Ser)

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.1354C>T (p.Pro452Ser)
HGVS:
  • NC_000003.12:g.24122916G>A
  • NG_009159.1:g.376907C>T
  • NM_000461.5:c.1354C>T
  • NM_001128176.3:c.1354C>T
  • NM_001128177.2:c.1354C>T
  • NM_001252634.2:c.1354C>T
  • NM_001354708.2:c.1354C>T
  • NM_001354709.2:c.1354C>T
  • NM_001354710.2:c.1354C>T
  • NM_001354711.2:c.1354C>T
  • NM_001354712.2:c.1354C>TMANE SELECT
  • NM_001354713.2:c.1354C>T
  • NM_001354714.2:c.1261C>T
  • NM_001354715.2:c.1261C>T
  • NM_001374822.1:c.1354C>T
  • NM_001374823.1:c.1354C>T
  • NM_001374824.1:c.1354C>T
  • NM_001374825.1:c.1354C>T
  • NM_001374826.1:c.1354C>T
  • NM_001374827.1:c.1183C>T
  • NP_000452.2:p.Pro452Ser
  • NP_001121648.1:p.Pro452Ser
  • NP_001121649.1:p.Pro452Ser
  • NP_001239563.1:p.Pro452Ser
  • NP_001341637.1:p.Pro452Ser
  • NP_001341638.1:p.Pro452Ser
  • NP_001341639.1:p.Pro452Ser
  • NP_001341640.1:p.Pro452Ser
  • NP_001341641.1:p.Pro452Ser
  • NP_001341642.1:p.Pro452Ser
  • NP_001341643.1:p.Pro421Ser
  • NP_001341644.1:p.Pro421Ser
  • NP_001361751.1:p.Pro452Ser
  • NP_001361752.1:p.Pro452Ser
  • NP_001361753.1:p.Pro452Ser
  • NP_001361754.1:p.Pro452Ser
  • NP_001361755.1:p.Pro452Ser
  • NP_001361756.1:p.Pro395Ser
  • NC_000003.11:g.24164407G>A
  • NM_000461.5:c.1354C>T
Protein change:
P395S
Molecular consequence:
  • NM_000461.5:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128176.3:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128177.2:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001252634.2:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354708.2:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354709.2:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354710.2:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354711.2:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354712.2:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354713.2:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354714.2:c.1261C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354715.2:c.1261C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374822.1:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374823.1:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374824.1:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374825.1:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374826.1:c.1354C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374827.1:c.1183C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004803680Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Jan 23, 2024) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

[Clinical characteristics of thyroid hormone resistance syndrome in two cases with different subtypes].

Sun H, Chen XL, Chen T, Wu HY, Xie RR, Wang FY, Wang XY, Chen LQ.

Zhonghua Er Ke Za Zhi. 2017 Dec 2;55(12):953-956. doi: 10.3760/cma.j.issn.0578-1310.2017.12.017. Chinese.

PubMed [citation]
PMID:
29262478

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004803680.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: THRB c.1354C>T (p.Pro452Ser) results in a non-conservative amino acid change located in the Nuclear hormone receptor, ligand-binding domain (IPR000536) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251492 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1354C>T has been reported in the literature in at least one individual affected with Thyroid Hormone Resistance (Sun_2022). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 29262478). ClinVar contains an entry for this variant (Variation ID: 1705477). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Mar 30, 2024