OPA1 S158N - 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:

OPA1 S158N

(OPA1 Ser158Asn)


Short summary

 

Variant evidence
Computational 3

GVGD: GV 87.36; GD 0.00; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.4);
PolyPhen=benign(0.01);
Condel=neutral(0.277)
Mutation Tasting prediction: Polymorphism p: 0.999998; Protein features (might be) affected (TOPO_DOMAIN Mitochondrial intermembrane (By similarity) 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 @ chr3:193334991: 49.6% (5338/10754) in EVS
  • A @ chr3:194817684: 50.8% (64/126) in GET-Evidence
  • Frequency shown in summary reports: 49.6% (5338/10754)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chr3:193334991

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr3:193334991

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr3:193334991

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr3:193334991

 

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr3:193334991

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr3:193334991

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr3:193334991

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom A @ chr3:193334991

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr3:193334991

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr3:193334991

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
hom A @ chr3:193334991

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr3:193334991

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr3:193334991

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr3:193334991

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr3:193334991

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr3:193334991

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr3:193334991

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom A @ chr3:193334991

 

GS06985 - var-GS06985-1100-36-ASM
het A @ chr3:194817685

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr3:194817685

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr3:194817685

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr3:194817685

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr3:194817685

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr3:194817685

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr3:194817685

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr3:194817685

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr3:194817685

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr3:194817685

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr3:194817685

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr3:194817685

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr3:194817685

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr3:194817685

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr3:194817685

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr3:194817685

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr3:194817685

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr3:194817685

 

GS19025 - var-GS19025-1100-36-ASM
hom A @ chr3:194817685

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr3:194817685

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr3:194817685

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr3:194817685

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr3:194817685

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr3:194817685

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr3:194817685

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr3:194817685

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr3:194817685

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr3:194817685

 

GS19703 - var-GS19703-1100-36-ASM
hom A @ chr3:194817685

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr3:194817685

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr3:194817685

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr3:194817685

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr3:194817685

 

Other external references
 

    dbSNP
  • rs7624750
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the OPA1 gene
    FG Syndrome Type 1
    Lujan Syndrome
    MED12-Related Disorders
    Optic Atrophy Type 1
    Optic Atrophy Type 1 and Deafness
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPA1
    PolyPhen-2
  • Score: 0.002 (benign)
    Web search results (9 hits -- see all)
  • SNP link
    01 secretion machinery core component genes. 1 SNAP23. SNAP23. no cSNPs. on synaptic ... 22 OPA1. OPA1. 7624750. S158N. HapMap:0.417. http://www.ncbi.nlm.nih.gov ...
    www.cncr.vu.nl/presynaptic_SNPs.pdf
  • Yao, Mol Vis 2006; 12:649-654.
    Sixteen variants are observed in the OPA1 gene, of which 10 are novel. ... of OPA1 (Table 3), of which 10 were novel. Two sequence changes, S158N and A210V, ...
    www.molvis.org/molvis/v12/a73
  • Evaluation of the association between OPA1 polymorphisms and ...
    The remaining exons of OPA1 were. screened for sequence variations in ... of OPA1 (Table 3), of which 10 were. novel. Two sequence changes, S158N and A210V, ...
    www.molvis.org/molvis/v12/a73/v12a73-yao.pdf
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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