C9 P167S - 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:

C9 P167S

(C9 Pro167Ser)


Short summary

Saksens et al. find this variant to be among a few rare variants associated with age-related macular degeneration, however its effect appears to be related to earlier age at symptom onset and was not shown to segregate completely with disease within families.

Variant evidence
Computational 2

NBLOSUM=3
PolyPhen-2 predicts damaging effect

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 @ chr5:39331894: 0.6% (67/10758) in EVS
  • A @ chr5:39367650: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.6% (67/10758)

Publications
 

Saksens NT, Geerlings MJ, Bakker B, Schick T, Daha MR, Fauser S, Boon CJ, de Jong EK, Hoyng CB, den Hollander AI. Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration. JAMA Ophthalmol. 2016 Mar 1;134(3):287-93. doi: 10.1001/jamaophthalmol.2015.5592. PubMed PMID: 26767664.

 

Genomes
 

Other external references
 

    PolyPhen-2
  • Score: 0.999 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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