RET G691S - GET-Evidence

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

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Curation:
Currentness:

RET G691S

(RET Gly691Ser)


Short summary

 

Variant evidence
Computational -
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 @ 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)

Publications
 

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.

Genomes
 

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
 

    dbSNP
  • rs1799939
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the RET gene
    Hirschsprung Disease
    Multiple Endocrine Neoplasia Type 2
    RET-Related Hirschsprung Disease
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RET
    PolyPhen-2
  • 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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