F5 D2222G - GET-Evidence

Curation:
Currentness:

F5 D2222G

(F5 Asp2222Gly)


Short summary

Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.

Variant evidence
Computational 2

NBLOSUM >=3, other mutations in this gene cause disease

See unpublished research (below).

Functional

See unpublished research (below).

Case/Control

See unpublished research (below).

Familial

See unpublished research (below).

 
Clinical importance
Severity

See unpublished research (below).

Treatability

See unpublished research (below).

Penetrance -
 

Impact

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

undefined

Summary of published research, and additional commentary

Used in Counsyl Diagnostic Screen http://precedings.nature.com/documents/4192/version/1

Although this gene is implicated in disease, there appears to be no literature implicating this variant as being pathogenic. Given that it is fairly common in the population, this implies that it is benign.

Allele frequency

  • C @ chr1:169483561: 4.5% (483/10758) in EVS
  • C @ chr1:167750184: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (483/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr1:169483561

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr1:169483561

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr1:169483561

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr1:167750185

 

GS20502 - var-GS20502-1100-36-ASM
het C @ chr1:167750185

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr1:167750185

 

Other external references
 

    dbSNP
  • rs6027
    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 (2 hits -- see all)
  • *αí*ß>* *'*)* "
    Metafacile: per non perdersi il bello della Franciacorta. La Strada del Franciacorta a ... 8gêΣtè)Q*j*f5B*|ⁿw`î**ò媬OSÖ1=I*£C¿i*NO£;Gu<e ...
    www.stradadelfranciacorta.it/docs/nl 10.06.doc

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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