TSHR P52T - GET-Evidence

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

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(TSHR Pro52Thr)

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Short summary


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 -


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)


Added in this revision:

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.


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.


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

  • rs2234919
  • GeneTests records for the TSHR gene
    Congenital Hypothyroidism
    Familial Non-Autoimmune Hyperthyroidism
    Hyperthyroidism, Nonautoimmune

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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