SGCB S114F - 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:

SGCB S114F

(SGCB Ser114Phe)


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

  • A @ chr4:52895932: 0.0% (4/10758) in EVS
  • Frequency shown in summary reports: 0.0% (4/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the SGCB gene
    Limb-Girdle Muscular Dystrophies, Autosomal Recessive
    Sarcoglycanopathies
    Beta-Sarcoglycanopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCB
    PolyPhen-2
  • Score: 0.83 (possibly damaging)
    Web search results (4 hits -- see all)
  • Muscular Dystrophy Immunostaining Menu
    A national anatomic and clinical pathology reference laboratory ... β-sarcoglycan, SGCB (common point mutation, p.S114F) Muscular Dystrophy Molecular ...
    medicine.uiowa.edu/uidl/.../site/test_menus/index.html
  • Limb-Girdle Muscular Dystrophy, autosomal recessive (LGMD2)
    A national anatomic and clinical pathology reference laboratory ... (SGCB) PCR-based detection of common point mutation (c.341C>T; p.S114F) Muscular ...
    medicine.uiowa.edu/uidl/muscular_dystropy/.../index.html
  • Type I- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... GALC P54803 Y551S 551 VAR_003403 Src (0.816) GLD, belgian patient PLK4 O00444 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt
  • Type I- 97%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... CK1 (0.632) Con1-, abolishes the glycosylation site at position 238 8554050 NME1 ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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