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 7:27am 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)


Added in this revision:

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.



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

Edit history

Gene search

"GENE" or "GENE A123C":

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