DSG2 E713K - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

DSG2 E713K

(DSG2 Glu713Lys)


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 @ chr18:29122618: 5.8% (582/10120) in EVS
  • A @ chr18:27376615: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 5.8% (582/10120)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr18:29122618

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr18:29122618

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr18:29122618

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr18:29122618

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr18:29122618

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr18:29122618

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr18:29122618

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr18:29122618

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr18:27376616

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr18:27376616

 

Other external references
 

    dbSNP
  • rs79241126
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the DSG2 gene
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/DSG2
    PolyPhen-2
  • Score: 0.137 (benign)
    Web search results (7 hits -- see all)
  • Nature Clinical Practice Cardiovascular Medicine | Variations ...
    Variations in DSG2: V56M, V158G and V920G are not pathogenic for ... our study we also identified the DSG2-E713K polymorphism in 16% of 73 patients with FDCM as well as in 13.9 ...
    nature.com/nrcardio/journal/v5/n12/full/ncpcardio1434.html
  • DSG2 - desmoglein 2
    Dsg2 is immunolocalised at cell-cell boundaries in normal gastric mucosa. ... E713K in desmoglein-2 and arrhythmogenic right ventricular dysplasia/ cardiomyopathy. ...
    www.ihop-net.org/UniPub/iHOP/bng/87810.html
  • Nature Clinical Practice Cardiovascular Medicine | E713K in ...
    E713K in desmoglein-2 and arrhythmogenic right ventricular dysplasia/cardiomyopathy ... and Klauke for reporting further characterization of this DSG2 allele. ...
    nature.com/nrcardio/journal/v5/n10/full/ncpcardio1351.html
  • BioPortfolio - desmoglein 2
    Desmoglein-2 is a protein that in humans is encoded by the DSG2 gene. ... E713K in desmoglein-2 and arrhythmogenic right ventricular dysplasia ...
    www.bioportfolio.com/search/desmoglein_2.html
  • Desmoglein 2 : KMLE Medical Dictionary - Online medical ...
    Aims Mutations in the desmoglein-2 (DSG2) gene have been reported in patients with ... E713K in desmoglein-2 and arrhythmogenic right ventricular dysplasia/ cardiomyopathy ...
    www.kmle.com/search.php?Search=Desmoglein+2
  • News Archive
    and their paper mentioned below, the desmoglein-2 (DSG2) mutations V158G and V920G are now classified as ... response from Judge, the DSG2 E713K mutation is now classified as ...
    arvcdatabase.info/newsarchive.aspx
  • Papers by Judge DP | Labmeeting
    E713K in desmoglein-2 and arrhythmogenic right ventricular dysplasia/cardiomyopathy. ... DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. ...
    www.labmeeting.com/papers/author/judge-dp

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in