SCNN1G G183S - GET-Evidence

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

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Curation:
Currentness:

SCNN1G G183S

(SCNN1G Gly183Ser)


Short summary

This variant is associated with weak gain-of-function effect leading to bronchiectasis in one female of African origin.

Variant evidence
Computational -
Functional -
Case/Control

OR=1

See Fajac I et al. 2008 (18507830).

Familial -
 
Clinical importance
Severity 1

Low predicted effect

See Fajac I et al. 2008 (18507830).

Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

other

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr16:23200921: 1.2% (132/10758) in EVS
  • A @ chr16:23108421: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (132/10758)

Publications
 

Vormfelde SV, Sehrt D, Toliat MR, Schirmer M, Meineke I, Tzvetkov M, N├╝rnberg P, Brockm├Âller J. Genetic variation in the renal sodium transporters NKCC2, NCC, and ENaC in relation to the effects of loop diuretic drugs. Clin Pharmacol Ther. 2007 Sep;82(3):300-9. Epub 2007 Apr 25. PubMed PMID: 17460608.

In a study involving 97 healthy individuals testing the diuretic effects of various compounds, this variant was found heterozygously in one individual. No further information is provided.

Fajac I, Viel M, Sublemontier S, Hubert D, Bienvenu T. Could a defective epithelial sodium channel lead to bronchiectasis. Respir Res. 2008 May 28;9:46. PubMed PMID: 18507830; PubMed Central PMCID: PMC2435537.

In a study of 55 French individuals with bronchiectasis, this variant was seen in one female of African origin. It was not seen in 55 “ethnically matched Caucasian controls”. The patient had an abnormal basal nasal PD, but this variant has been seen in other studies in controls. The authors conclude that there may be weak gain of function (dominant) effect similar to that of Liddle’s Syndrome, and this effect may be too slight to be detected through functional assays involving Xenopus cells. OR = 1, p-value 1.

Genomes
 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr16:23108422

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr16:23108422

 

Other external references
 

    dbSNP
  • rs5736
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (1 hit -- see all)
  • OMIM: 600761
    Voilley et al. (1995) cloned the human SCNN1G cDNA from a human lung library. ... 3 of the SCNN1G gene, resulting in a gly183-to-ser (G183S) substitution at a conserved ...
    www.genome.jp/dbget-bin/www_bget?mim:600761

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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