LDLR T726I - GET-Evidence

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

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Curation:
Currentness:

LDLR T726I

(LDLR Thr726Ile)


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

  • T @ chr19:11233886: 0.6% (63/10758) in EVS
  • T @ chr19:11094885: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.6% (63/10758)

Publications
 

Genomes
 

Other external references
 

    dbSNP
  • rs45508991
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.025 (benign)
    Web search results (4 hits -- see all)
  • Frequency of Low-Density Lipoprotein Receptor Gene Mutations ...
    (LDLR) and apolipoprotein B (APOB) genes in consecutive patients with ... Screening for LDLR defects is advisable for patients with a clinical diagnosis ...
    progenika.com/eu/images/.../civeira_f._et_al._jacc_2008.pdf
  • LDLR @ www.ucl.ac.uk/ldlr/LOVDv.1.1.0/
    Found as a double mutant with: c.2177C>T, p.T726I and also with c.2140+1G>A and as a ... LDLRdb-ID: LDLR database IDentifier; if present, links to OMIM ID's ...
    ucl.ac.uk/ldlr/Current/search.php?select_db=LDLR&...
  • LDLR @ www.ucl.ac.uk/ldlr/LOVDv.1.1.0/
    Residue conserved in 10/14 LDLR peptide sequences. Non-conservative substitution (polar ... [c.274C>G, p.Q92E; c.313+1G>C]+[c.1061-8T>C; c.2177C>T, p.T726I] ...
    ucl.ac.uk/ldlr/Current/search.php?select_db=LDLR&...
  • Challenges and Opportunities in Translational Genomics Leslie ...
    LDLR variants. • N=75 ClinSeq. – A50S. – A391T. – T726I. – A391T. – A391T ... T726I. – R744Q:A391T. – A391T. • N=5 HapMap. – A391T. Medical history. • 65 ...
    genome.gov/Pages/About/OD/.../June2008_BieseckerHoL.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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