F5 M413T - GET-Evidence

Curation:
Currentness:

F5 M413T

(F5 Met413Thr)


Short summary

Presumed benign. This variant is not particularly rare and has not been reported to cause disease.

Variant evidence
Computational 1

NBLOSUM does not support a disruptive effect.

Functional -
Case/Control

No case control data

Familial -
 
Clinical importance
Severity -
Treatability -
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

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • G @ chr1:169521853: 5.8% (625/10758) in EVS
  • G @ chr1:167788476: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 5.8% (625/10758)

Publications
 

Smith NL, Hindorff LA, Heckbert SR, Lemaitre RN, Marciante KD, Rice K, Lumley T, Bis JC, Wiggins KL, Rosendaal FR, Psaty BM. Association of genetic variations with nonfatal venous thrombosis in postmenopausal women. JAMA. 2007 Feb 7;297(5):489-98. PubMed PMID: 17284699.

The authors note an increased risk observation for this variant that failed to meet statistical significance and was not consistent with previous literature.

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr1:169521853

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr1:169521853

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr1:169521853

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr1:169521853

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr1:167788477

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr1:167788477

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr1:167788477

 

Other external references
 

    dbSNP
  • rs6033
    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)
  • Thrombosis in Postmenopausal Women Association of Genetic ...
    Factor V (F5) Lower half. 71.3.‡ 5. 7. 91.7 .24 .39. Upper half. 71.3.‡ 9. 10 ... factor V M413T variant, in strong link- age disequilibrium with factor V HR2, was ...
    jama.ama-assn.org/cgi/reprint/297/5/489.pdf
  • 产品2008-11-30
    产品2008-11-30 ... 鏈 敯CBR600(F5)鎽墭杞〉姩鍔涘己鍔诧紝澹伴煶鐗瑰ソ锟5000鍏. 浣愪腹濂碩鎭ょ敓浜у巶瀹剁洿鎵8鍏冭捣13249897268. 鎶曡祫鍒涗笟濂介」鐩--灏忓ぉ楣呮姇甯佹礂琛f満椤圭洰鍏ㄥ浗鎷涘晢. 骞垮窞娴峰痉鍫$數鏈轰慨鐞嗗巶13672449079 ...
    www.fige.com.cn/133/11272s.html

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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