F5 D107H - 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:

F5 D107H

(F5 Asp107His)


Short summary

 

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.001
SIFT: Tolerated 0.31
GVGD: GV 81.24; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.35);
PolyPhen=benign(0.01);
Condel=neutral(0.326)
Mutation Tasting Prediction: Polymorphism, P value: 0.044492; protein features (might be) affected (aa 30-193 DOMAIN Plastocyanin-like 1 gets lost; aa 30-329 DOMAIN F5/8 type A1 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

  • G @ chr1:169541513: 15.7% (1692/10756) in EVS
  • G @ chr1:167808136: 14.8% (19/128) in GET-Evidence
  • Frequency shown in summary reports: 15.7% (1692/10756)

Publications
 

Genomes
 

 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr1:169541513

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het G @ chr1:169541513

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr1:169541513

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr1:167808137

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr1:167808137

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr1:167808137

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr1:167808137

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr1:167808137

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr1:167808137

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr1:167808137

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr1:167808137

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr1:167808137

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr1:167808137

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr1:167808137

 

GS21767 - var-GS21767-1100-36-ASM
hom G @ chr1:167808137

 

Other external references
 

    dbSNP
  • rs6019
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the F5 gene
    Budd-Chiari Syndrome
    Factor V Cambridge Thrombophilia
    Factor V Deficiency
    Factor V Leiden Thrombophilia
    Factor V R2 Mutation Thrombophilia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F5
    Web search results (1 hit -- see all)
  • cDNA-polymorphisms-table.doc
    ... orientation of the Factor V gene (F5). Nucleotide positions have been numbered in several ... 4 F5 exon 4 Bsp1286I (1) ss44108684; ABI|hCV 8919457 ...
    lumc.nl/rep/.../documents/cdna-polymorphisms-table-2008.doc

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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