TREM2 R47H - GET-Evidence

Curation:
Currentness:

TREM2 R47H

(TREM2 Arg47His)


Short summary

Unreported, predicted to be damaging. Other recessive mutations in this gene cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (a severe genetic disorder, usually lethal by age 50).

Variant evidence
Computational 1

Polyphen 2 predicts damaging effect

Functional -
Case/Control

No case control data

Familial

No familial data

 
Clinical importance
Severity 4

Death usually by age 50 (Genetests)

Treatability 1
Penetrance 5
 

Impact

High clinical importance, Uncertain pathogenic

(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

Other recessive substitution variants in this gene are reported to cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Polyphen 2 predicts damaging effect for this variant. Because it is seen in only one individual and is unreported upon, it is tentatively evaluated as possibly causing the same disease in a recessive manner.

Allele frequency

  • T @ chr6:41129252: 0.2% (21/10758) in EVS
  • T @ chr6:41237229: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.2% (21/10758)

Publications
 

Genomes
 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr6:41129252

 

Other external references
 

    dbSNP
  • rs75932628
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TREM2 gene
    Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoen
    TREM2-Related Polycystic Lipomembranous Osteodysplasia with Scle
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TREM2
    PolyPhen-2
  • Score: 1.0 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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