TSHR P52T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

TSHR P52T

(TSHR Pro52Thr)


Short summary

Two individuals homozygous for TSHR-P52T have normal thyroid function. This allele is likely benign.

Variant evidence
Computational 1

PolyPhen-2 predicts TSHR-P52T to be BENIGN with a score of 0.000 (sensitivity: 1.00; specificity: 0.00).

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr14:81422178: 4.6% (496/10758) in EVS
  • A @ chr14:80491930: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.6% (496/10758)

Publications
 

Cuddihy RM, Bryant WP, Bahn RS. Normal function in vivo of a homozygotic polymorphism in the human thyrotropin receptor. Thyroid. 1995 Aug;5(4):255-7. PubMed PMID: 7488864.

We report here two individuals with normal thyroid function who are homozygous for the thyrotropin receptor polymorphism, suggesting that the altered receptor is able to respond normally to thyrotropin with respect to the maintenance of the euthyroid state.

Ho SC, Goh SS, Khoo DH. Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins. Thyroid. 2003 Jun;13(6):523-8. PubMed PMID: 12930595.

Both the P52T and D727E mutations were not associated with GD.

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr14:81422178

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr14:81422178

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr14:81422178

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr14:81422178

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr14:81422178

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom A @ chr14:81422178

 

Other external references
 

    dbSNP
  • rs2234919
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TSHR gene
    Congenital Hypothyroidism
    Familial Non-Autoimmune Hyperthyroidism
    Hyperthyroidism, Nonautoimmune
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TSHR

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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