CAPN3 A236T - 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:

CAPN3 A236T

(CAPN3 Ala236Thr)


Short summary

 

Variant evidence
Computational 2

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 58.02; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(1);
PolyPhen=benign(0);
Condel=not_computable_was(-1)
Mutation Tasting Prediction: Polymorphism, P value: 0.999997; protein features (might be) affected (aa 74-417 DOMAIN Calpain catalytic gets lost)

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 @ chr15:42681199: 24.5% (2638/10758) in EVS
  • A @ chr15:40468490: 25.8% (33/128) in GET-Evidence
  • Frequency shown in summary reports: 24.5% (2638/10758)

Publications
 

Genomes
 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr15:42681199

 

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr15:42681199

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr15:42681199

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr15:42681199

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr15:42681199

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr15:40468491

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr15:40468491

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr15:40468491

 

GS18508 - var-GS18508-1100-36-ASM
hom A @ chr15:40468491

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr15:40468491

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr15:40468491

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr15:40468491

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr15:40468491

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr15:40468491

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr15:40468491

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr15:40468491

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr15:40468491

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr15:40468491

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr15:40468491

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr15:40468491

 

GS19701 - var-GS19701-1100-36-ASM
hom A @ chr15:40468491

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr15:40468491

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr15:40468491

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr15:40468491

 

Other external references
 

    dbSNP
  • rs1801449
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (9 hits -- see all)
  • Piluso et al., 1 The extensive scanning of the calpain-3 gene ...
    Mutations at the calpain 3 locus (CAPN3) cause LGMD2A. Objective: To obtain a non-biased ... We found CAPN3 mutations in 35.1% of classical LGMD phenotypes. ...
    www.vincenzonigro.it/Piluso et al. CAPN3 JMG 2005.pdf
  • Calpainopathy—A Survey of Mutations and Polymorphisms
    along the schematic representation of the CAPN3 gene and protein. The number of ... CAPN3—namely, titin-binding ability, autolysis capac- ity, and ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Extensive scanning of the calpain-3 gene broadens the ...
    To obtain unbiased information on the consequences of CAPN3 mutations. ... DNA pools, was used to obtain unbiased information on the consequences of CAPN3 ...
    vincenzonigro.it/Pages from Piluso, Politano et al, JMG 0...
  • On-line supplementary information
    On-line supplementary information. Table A. Mutations found in CAPN3 patients ... A236T * Exon 5. 708. IVS7 +198 C. T. Intron 7. 1029+198. IVS9-26 C. G ...
    brain.oxfordjournals.org/cgi/data/awh408/DC1/1

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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