RET Y791F - GET-Evidence

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

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(RET Tyr791Phe)

You are viewing an old version of this page that was saved on November 27, 2013 at 8:30am by Madeleine Ball.

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pathogenic

(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

  • T @ chr10:43613908: 0.1% (14/10758) in EVS
  • Frequency shown in summary reports: 0.1% (14/10758)


Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, Raue F, Ritter MM, Höppner W. A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab. 1998 Mar;83(3):770-4. PubMed PMID: 9506724.


Added in this revision:

Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T, Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peçzkowska M, Szmigielski C, Eng C; Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002 May 9;346(19):1459-66. PubMed PMID: 12000816.



Other external references

  • GeneTests records for the RET gene
    Hirschsprung Disease
    Multiple Endocrine Neoplasia Type 2
    RET-Related Hirschsprung Disease
  • Score: 0.402 (possibly damaging)
    Web search results (579 hits -- see all)
  • JCEM -- eLetters for Erlic et al., 95 (1) 308-313
    Pathogenicity of the p.Tyr791Phe RET Germline Mutation. Andreas Machens, Henning Dralle ... 2007 Y791F RET mutation and early onset of medullary thyroid ...
  • New Products / Carna Biosciences Inc.
    RET[G691S] (Custom Profiling Comparative Inhibitory Activity) RET[G691S] (Custom ... RET[Y791F] (Custom Profiling Comparative Inhibitory Activity) ...
  • Primary hyperparathyroidism as the leading symptom in a ...
    Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation. ... a mutation (Y791F, TAT-->TTT) in exon 13 of the RET proto-oncogene. ...
  • CORDIS: Technology Marketplace: Results
    Abstract: The proto-oncogene RET a member of the tyrosine-kinase receptor its ... The RET Y791F mutation may be a common genetic abnormality underlying ...
  • Fenotypes in patients with Y791F mutation of RET protooncogene
    Mutation Y791F of RET protooncogene is a well known mutation so far described in families with FMTC and familial pheochromocytoma in one family. ...
  • RET-Familial Medullary Thyroid Carcinoma Mutants Y791F and ...
    The RET proto-oncogene encodes a receptor tyrosine kinase. whose dysfunction plays a ... properties of two FMTC-associated RET mutations, Y791F and ...
  • RET-Familial Medullary Thyroid Carcinoma Mutants Y791F and ...
    RET-Familial Medullary Thyroid Carcinoma Mutants Y791F and S891A Activate a Src/JAK/STAT3 Pathway, Independent of Glial Cell Line–Derived Neurotrophic Factor ...
  • High Penetrance of Pheochromocytoma Associated with the Novel ...
    Patients: Sixteen patients from four unrelated families and harboring the C634Y/Y791F double RET germline mutation were included in the study. ...
  • Transcriptome analysis in mouse tumors induced by Ret-MEN2 ...
    Activating mutations in the Ret proto-oncogene are responsible for occurrence of multiple ... NIH-RET(MEN2B) (A883F, M918T) and NIH-RET(FMTC) (Y791F)-specific ...
  • Carna Biosciences, Inc.

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 5

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Gene search

"GENE" or "GENE A123C":

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