F5 K925E - 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 K925E

(F5 Lys925Glu)


Short summary

 

Variant evidence
Computational 2

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 56.87; 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: 0.999999
protein features (might be) affected (aa 692-1573 REGION B gets lost; aa 738-1573 PROPEP Activation peptide (connecting region) /FTId=PRO_0000002980 gets lost; aa 895-928 REGION 2 X 17 AA tandem repeats gets lost; aa 912-928 REPEAT 1-2 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

  • C @ chr1:169511555: 24.4% (2621/10758) in EVS
  • C @ chr1:167778178: 29.7% (38/128) in GET-Evidence
  • Frequency shown in summary reports: 24.4% (2621/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr1:169511555

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom C @ chr1:169511555

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr1:169511555

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr1:169511555

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr1:169511555

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr1:169511555

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr1:169511555

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het C @ chr1:169511555

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr1:169511555

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr1:169511555

 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr1:169511555

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr1:169511555

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr1:169511555

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr1:169511555

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr1:169511555

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr1:169511555

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr1:169511555

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chr1:169511555

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr1:167778179

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr1:167778179

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr1:167778179

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr1:167778179

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr1:167778179

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr1:167778179

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr1:167778179

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr1:167778179

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr1:167778179

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr1:167778179

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr1:167778179

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr1:167778179

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr1:167778179

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr1:167778179

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr1:167778179

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr1:167778179

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr1:167778179

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr1:167778179

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr1:167778179

 

Other external references
 

    dbSNP
  • rs6032
    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

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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