LRP8 R952Q - 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.

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Curation:
Currentness:

LRP8 R952Q

(LRP8 Arg952Gln)


Short summary

 

Variant evidence
Computational 3

PolyPhen2: Probably damaging 0.966
SIFT: Affect protein function 0.00
GVGD: Class C35

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(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 @ chr1:53712727: 29.0% (3121/10758) in EVS
  • T @ chr1:53485314: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 29.0% (3121/10758)

Publications
 

Shen GQ, Li L, Girelli D, Seidelmann SB, Rao S, Fan C, Park JE, Xi Q, Li J, Hu Y, Olivieri O, Marchant K, Barnard J, Corrocher R, Elston R, Cassano J, Henderson S, Hazen SL, Plow EF, Topol EJ, Wang QK. An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction. Am J Hum Genet. 2007 Oct;81(4):780-91. Epub 2007 Aug 31. PubMed PMID: 17847002; PubMed Central PMCID: PMC2227927.

 

Lieb W, Zeller T, Mangino M, Götz A, Braund P, Wenzel JJ, Horn C, Proust C, Linsel-Nitschke P, Amouyel P, Bruse P, Arveiler D, König IR, Ferrières J, Ziegler A, Balmforth AJ, Evans A, Ducimetière P, Cambien F, Hengstenberg C, Stark K, Hall AS, Schunkert H, Blankenberg S, Samani NJ, Erdmann J, Tiret L. Lack of association of genetic variants in the LRP8 gene with familial and sporadic myocardial infarction. J Mol Med. 2008 Oct;86(10):1163-70. Epub 2008 Jul 1. PubMed PMID: 18592168.

 

Genomes
 

 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr1:53712727

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr1:53712727

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr1:53712727

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr1:53712727

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr1:53712727

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr1:53712727

 

 

 

GS06985 - var-GS06985-1100-36-ASM
hom T @ chr1:53485315

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr1:53485315

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr1:53485315

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr1:53485315

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr1:53485315

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr1:53485315

 

Other external references
 

    dbSNP
  • rs5174
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Coronary Artery Disease; Myocardial Infarction]
    In GWAS of white cohorts, rs5174 was found to be significantly associated with premature and familial Coronary Arteriosclerosis and Myocardial Infarction but not with sporadic and late-onset forms of the diseases.
    www.ncbi.nlm.nih.gov/pubmed/17847002

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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