TGFBI L509R - 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:

TGFBI L509R

(TGFBI Leu509Arg)


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

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the TGFBI gene
    Avellino Corneal Dystrophy
    Corneal Dystrophy of Bowman Layer, Type 1
    Lattice Corneal Dystrophy Type I
    Lattice Corneal Dystrophy Type IIIa
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGFBI
    PolyPhen-2
  • Score: 0.96 (probably damaging)
    Web search results (2 hits -- see all)
  • A subset of patients with epithelial basement membrane ...
    ... individuals; we identified two different point mutations in the TGFBI/BIGH3 ... with EBMD and it increases the spectrum of mutations in the TGFBI/BIGH3 gene. ...
    www.iro.vsnet.ch/files/publication/2006_boutboul.pdf
  • Type III 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... (0.529) GSK (0.876) colorectal cancer 12198537 TGFBI Q15582 L269F 263 VAR_031533 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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