CFTR I506V - GET-Evidence

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

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Curation:
Currentness:

CFTR I506V

(CFTR Ile506Val)


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

  • G @ chr7:117199641: 0.0% (2/10758) in EVS
  • Frequency shown in summary reports: 0.0% (2/10758)

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: 0.98 (probably damaging)
    Web search results (169 hits -- see all)
  • AutoGenomics INFINITI™ CFTR-31
    The INFINITI CFTR-31 Assay is automated by the INFINITI Analyzer. The INFINITI CFTR-31 Assay is for research ... Homozygous variants will display Exon10 I506V-I507V-F508C. ...
    www.autogenomics.com/1/genetics_CFTR.php
  • Genetic Testing
    INNO-LiPA CFTR is a multiparameter line probe assay, based on the ... Evaluation of the probe specificity of INNO-LiPA CFTR at polymorphisms I506V, I507V, F508C and I506M. ...
    www.innogenetics.com/genetictesting.html?id=13
  • Cystic Fibrosis Screen
    Amplification of selected regions of the CFTR gene, followed by detection of wild-type ... F508 homozygote, reflex testing for I506V and I507V is performed to ...
    questdiagnostics.com/hcp/intguide/jsp/...
  • Diagnostic Testing by CFTR Gene Mutation Analysis in a Large ...
    CFTR encodes a protein that forms a chloride channel and regulates ... a total of 183 CFTR sequence changes (excluding the common M470V and I506V polymorphism ...
    jmd.amjpathol.org/cgi/content/full/7/2/289
  • A Comparative Study of Five Technologically Diverse CFTR ...
    (CFTR), is one of the most common autosomal recessive. diseases in the North American ... products are produced, the I506V and I507V polymorphisms do not ...
    jmd.amjpathol.org/cgi/reprint/9/3/401.pdf
  • Publications
    ... of INNO-LiPA CFTR at polymorphisms I506V, I507V, F508C and I506M. ... INNO-LiPA CFTR © Innogenetics 2009 - Last update - Website development by Lodestar ...
    www.innogenetics.com/publications.html?id=64
  • Cystic Fibrosis Cell Lines
    B-lymphocyte. Coriell. GM11275. NA11275. yes. 1 lab. CFTR. Δ. I507. 7T/7T ... CFTR. I506V. 5T/7T. yes. B-lymphocyte. Coriell. GM13032. NA13032. CFTR. F508del. Δ. exons 2,3 (21 ...
    wwwn.cdc.gov/dls/genetics/rmmaterials/pdf/cf.pdf
  • Lung Infections Associated with Cystic Fibrosis
    Defective CFTR protein impacts the function of the pancreas and ... of the CF gene product, CFTR, and chronic bacterial respiratory infections, ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC118069/?tool=pubmed
  • Lung Infections Associated with Cystic Fibrosis -- Lyczak et ...
    Defective CFTR protein impacts the function of the pancreas and ... of the CF gene product, CFTR, and chronic bacterial respiratory infections, ...
    cmr.asm.org/cgi/content/full/15/2/194
  • JAMA -- Mutation in the Gene Responsible for Cystic Fibrosis ...
    Analysis of CFTR Genes. Genomic DNA samples extracted from the blood ... in intron 8 and F508C, I507V, and I506V (exon 10) polymorphisms of the CFTR gene. ...
    jama.ama-assn.org/cgi/content/full/284/14/1814

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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