RET G691S - GET-Evidence

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

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(RET Gly691Ser)

Short summary


Variant evidence
Computational -
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 @ chr10:43610119: 15.6% (1681/10758) in EVS
  • A @ chr10:42930124: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 15.6% (1681/10758)


Yang Y, Houle AM, Letendre J, Richter A. RET Gly691Ser mutation is associated with primary vesicoureteral reflux in the French-Canadian population from Quebec. Hum Mutat. 2008 May;29(5):695-702. PubMed PMID: 18273880.

The authors screened the “RET gene and found that 83 out of 118 pVUR patients are carriers of the rare A allele of single nucleotide polymorphism (SNP) rs1799939:G>A that results in a Gly691Ser mutation.” Study was done in French-Canadian population in Quebec. A subsequent study in Ireland found no evidence for this phenotype.

Darlow JM, Molloy NH, Green AJ, Puri P, Barton DE. The increased incidence of the RET p.Gly691Ser variant in French-Canadian vesicoureteric reflux patients is not replicated by a larger study in Ireland. Hum Mutat. 2009 May;30(5):E612-7. PubMed PMID: 19306327.

Analyzed the Gly691Ser mutation and found “no evidence of any influence of RET SNP rs1799939 on pVUR phenotype” in a study of an Irish population.


hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr10:43610119


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr10:43610119



hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr10:43610119



hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom A @ chr10:43610119


hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr10:43610119


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr10:43610119


hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr10:43610119



huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr10:43610119


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom A @ chr10:43610119


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr10:43610119


GS07357 - var-GS07357-1100-36-ASM
het A @ chr10:42930125


GS10851 - var-GS10851-1100-36-ASM
het A @ chr10:42930125


GS18517 - var-GS18517-1100-36-ASM
het A @ chr10:42930125


GS18555 - var-GS18555-1100-36-ASM
het A @ chr10:42930125


GS18947 - var-GS18947-1100-36-ASM
het A @ chr10:42930125


GS19648 - var-GS19648-1100-36-ASM
het A @ chr10:42930125


GS19670 - var-GS19670-1100-36-ASM
hom A @ chr10:42930125


GS19703 - var-GS19703-1100-36-ASM
het A @ chr10:42930125


GS20509 - var-GS20509-1100-36-ASM
het A @ chr10:42930125


Other external references

  • rs1799939
  • GeneTests records for the RET gene
    Hirschsprung Disease
    Multiple Endocrine Neoplasia Type 2
    RET-Related Hirschsprung Disease
  • Score: 0.16 (benign)

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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