CFTR V470M - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

CFTR V470M

(CFTR Val470Met)


You are viewing an old version of this page that was saved on November 29, 2012 at 4:43am by Genome Importing Robot.

Short summary

 

Variant evidence
Computational 2

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 20.52; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(1);
PolyPhen=benign(0);
Condel=not_computable_was(-1)
Mutation Tasting Prediction: Polymorphism, P value: 0.999989; protein features (might be) affected (aa 351-859 TOPO_DOM Cytoplasmic (Potential) gets lost; aa 423-646 DOMAIN ABC transporter 1 gets lost).

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 @ chr7:117199533: 60.7% (6532/10758) in EVS
  • A @ chr7:116986768: 66.4% (85/128) in GET-Evidence
  • Frequency shown in summary reports: 60.7% (6532/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr7:117199533

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr7:117199533

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr7:117199533

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr7:117199533

 

 

Added in this revision:

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom A @ chr7:117199533

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr7:117199533

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr7:117199533

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr7:117199533

 

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr7:117199533

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr7:117199533

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr7:117199533

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr7:117199533

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr7:117199533

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr7:117199533

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr7:117199533

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr7:117199533

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr7:116986769

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr7:116986769

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr7:116986769

 

GS12004 - var-GS12004-1100-36-ASM
hom A @ chr7:116986769

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr7:116986769

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr7:116986769

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr7:116986769

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr7:116986769

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr7:116986769

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr7:116986769

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr7:116986769

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr7:116986769

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr7:116986769

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr7:116986769

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr7:116986769

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr7:116986769

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr7:116986769

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr7:116986769

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr7:116986769

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr7:116986769

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr7:116986769

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr7:116986769

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr7:116986769

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr7:116986769

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr7:116986769

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr7:116986769

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr7:116986769

 

GS19700 - var-GS19700-1100-36-ASM
hom A @ chr7:116986769

 

GS19701 - var-GS19701-1100-36-ASM
hom A @ chr7:116986769

 

GS19703 - var-GS19703-1100-36-ASM
hom A @ chr7:116986769

 

GS19704 - var-GS19704-1100-36-ASM
hom A @ chr7:116986769

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr7:116986769

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr7:116986769

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr7:116986769

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr7:116986769

 

NA12878

 

Other external references
 

    dbSNP
  • rs213950
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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 (benign)
    Web search results (8 hits -- see all)
  • AceView: Gene:CFTR, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=CFTR
  • Table 2 : Robust associations of four new chromosome regions ...
    Nature Genetics publishes the very highest quality research in genetics. It encompasses genetic and functional genomic studies on human traits and ...
    www.nature.com/ng/journal/v39/n7/fig_tab/ng2068_T2.html
  • 070205 HRMCA KRD Idaho Praha
    A mutations (on both alleles) in the gene coding for the CFTR protein ... sequence variations listed on this CFTR. mutation database. • Vast majority of mutations ...
    interactivebioscience.cz/admin/_docs/...
  • Science Buddies: "Ask an Expert" • View topic ...
    Donate to Science Buddies. Board index " Active Forums (Make all new posts here) " Grades 9-12 " Grades 9-12: ... snp=V470M&snp_chain=A&&message=&&locus_ac=1080&&symbol=CFTR) ...
    sciencebuddies.org/science-fair-projects/phpBB3/...&t=3625
  • CFTR基因10号外显子区异常与汉族青少年型慢性胰腺炎发病的关系_第八次检验医学学术会议
    CFTR基因10号外显子区异常与汉族青少年型慢性胰腺炎发病的关系. CFTR基因10号外显子区异常与汉族青少年型慢性胰腺炎发病的关系. 刘奇才, 欧启水. 福建医科大学附属第一医院 ... CFTR基因10号外显子p. V470M与汉族青少年型慢性胰腺炎发病存在一定的关系,p. K483Stop为新发现的突变形式,与胰腺炎的临床表型存在相关。 ...
    www.cslm.org.cn/cn/news.asp?abid=91.html
  • Abstract Book
    Expressed PDZ-binding Chloride Channels CFTR and ClC-3B ... CFTR Co-expressed with a Large Conductance Chloride. Channel in Apical Plasma Membrane of ...
    central.igc.gulbenkian.pt/cftr/.../abstract_book2003.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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