CFTR S912L - GET-Evidence

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

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Curation:
Currentness:

CFTR S912L

(CFTR Ser912Leu)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • T @ chr7:117243663: 0.1% (13/10758) in EVS
  • Frequency shown in summary reports: 0.1% (13/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the CFTR gene
    CFTR-Related Disorders
    CFTR-Related Hereditary Pancreatitis
    Hereditary Pancreatitis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFTR
    PolyPhen-2
  • Score: 0.008 (benign)
    Web search results (37 hits -- see all)
  • A neutral variant involved in a complex CFTR allele ...
    Both p.G1244V and [p.S912L;p.G1244V] mutants had normal protein processing but markedly ... p.S912L had normal protein processing and no detectable impact on CFTR function. ...
    www.ncbi.nlm.nih.gov/pubmed/15744523
  • Mol Cell Proteomics. 2005 Nov;4(11):1762-75. Epub 2005 Aug 11.
    p.S912L had normal protein processing and no detectable impact on CFTR function. In other respects, the p.S912L variation was identified in compound ...
    www.necker.fr/u467/abstracts2005.html
  • Publications de l'U 845 – Equipe Edelman (Inserm) (depuis 1999)
    CONCLUSION: Suppression of stop mutations in the CFTR gene with parenteral gentamycin ... S912L had. normal protein processing and no detectable impact on CFTR ...
    necker.fr/irnem/documents/.../publiunites/u845AE.pdf
  • Estoril, 30
    B2 CFTR Trafficking and Function in Native Human Epithelial Cells ... B7 CFTR Expression and Apical Targeting are Improved by Culturing. Human Airway Epithelial ...
    central.igc.gulbenkian.pt/cftr/.../abstract_book2001.pdf
  • Gender-sensitive association of CFTR gene mutations and 5T ...
    Gender-sensitive association of CFTR gene mutations and 5T allele ... Different CFTR mutation frequencies have been found in the world's population ...
    molehr.oxfordjournals.org/cgi/content/full/11/8/607
  • 1. Introduction
    father and one CFTR gene from his mother, both genes are called CFTR alleles. ... causing CFTR mutations on both CFTR alleles. While the earliest clear medical ...
    who.int/entity/genomics/.../en/HGN_WB_04.02_report.pdf
  • OMIM: 602421
    Mutations in the CFTR gene have been found to cause cystic fibrosis (CF; 219700) ... of the chromosomal segments encompassing the human CFTR and mouse Cftr genes. ...
    www.genome.jp/dbget-bin/www_bget?omim+602421
  • Table 2
    500 kb 3' of CFTR. Wagner, 1994 #255. S549N. exon 11. R75Q. exon 3. J ... S912L. exon 15. G1244V. exon 20. Savov, 1995 #309. G1069R. exon 17b. L88X. exon 3. Savov, 1995 ...
    www.genet.sickkids.on.ca/cftr/resource/Table2.html
  • The molecular genetic epidemiology of cystic fibrosis
    father and one CFTR gene from his mother, both genes are called CFTR alleles. ... Moreover, neonatal screening, cascade screening, and prenatal diagnosis of CFTR ...
    whqlibdoc.who.int/hq/2004/WHO_HGN_CF_WG_04.02.pdf
  • FINDbase
    CFTR. Cystic Fibrosis. 1367delC. CFTR. Cystic Fibrosis. 1461ins4. CFTR ... G1244V (+S912L) CFTR. Cystic Fibrosis. G1249E. CFTR. Cystic Fibrosis. G1249R. CFTR. Cystic ...
    findbase.org/display-file.php?...&consortium=

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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