ENPP1 R774C - 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:

(See the latest version)

ENPP1 R774C

(ENPP1 Arg774Cys)


You are viewing an old version of this page that was saved on May 2, 2011 at 6:12pm by Madeleine Ball.

Edited in this revision:

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

dbSNP reports that this variant has 5% allele frequency in a 120 chromosome low-coverage CEU panel (1000 genomes) and 2.6% in a mixed panel of Caucasian & African American samples. Lorenz-Depiereux et al. point to this as suggesting that the variant is a non-pathogenic polymorphism.

http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=28933977

The predicted incidence of homozygotes (1 in 400) vs. the incidence of the disease (quite rare) implies that this variant is not causal.

Allele frequency

  • T @ chr6:132206079: 2.6% (278/10758) in EVS
  • Frequency shown in summary reports: 2.6% (278/10758)

Publications
 

Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010 Feb 12;86(2):267-72. Epub 2010 Feb 4. PubMed PMID: 20137773; PubMed Central PMCID: PMC2820166.

 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.746 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in