CFH S890I - 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:

CFH S890I

(CFH Ser890Ile)


Short summary

 

Variant evidence
Computational 1

PolyPhen: Possibly damaging 0.414
SIFT: Tolerated 0.06
GVGD: GV 242.22; GD 64.73; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.16);
PolyPhen=possibly_damaging(0.215);
Condel=deleterious(0.476)
Mutation Tasting Prediction: Polymorphism, P value: 0. 873732; protein features (might be) affected (aa 868-928 DOMAIN Sushi 15 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

  • T @ chr1:196706677: 6.8% (729/10758) in EVS
  • T @ chr1:194973299: 8.1% (10/124) in GET-Evidence
  • Frequency shown in summary reports: 6.8% (729/10758)

Publications
 

Genomes
 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr1:196706677

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr1:194973300

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr1:194973300

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr1:194973300

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr1:194973300

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr1:194973300

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr1:194973300

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr1:194973300

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr1:194973300

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr1:194973300

 

Other external references
 

    dbSNP
  • rs515299
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CFH gene
    Age-related macular degeneration
    Age-Related Macular Degeneration 4
    Atypical Hemolytic-Uremic Syndrome
    CFH-Related Atypical Hemolytic-Uremic Syndrome
    CFH-Related Dense Deposit Disease / Membranoproliferative Glomer
    Dense Deposit Disease / Membranoproliferative Glomerulonephritis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFH
    PolyPhen-2
  • Score: 0.66 (possibly damaging)
    Web search results (5 hits -- see all)
  • Atypical haemolytic uraemic syndrome
    and a better outcome after transplantation than either CFH-HUS or IF-HUS. ... The figure shows the 20 complement control protein (CCP) structures of CFH. ...
    bmb.oxfordjournals.org/cgi/reprint/ldl004v2.pdf
  • Type I- 97%
    ... target genes 12027456 10666372 10435629 12000790 12114015 11818547 IRS1 P35568 ... (0.671) RSK (0.968) HEMB CFH P08603 S890I 890 VAR_025093 gCK1 (0.664) PAH P00439 ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeI-_97.txt
  • Type I- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... 832) Brugada syndrome 12106943 CFH P08603 Y1021F 1021 VAR_025871 JakA ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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