FANCA M717I - GET-Evidence

Curation:
Currentness:

FANCA M717I

(FANCA Met717Ile)


Short summary

Rare polymorphism, not considered pathogenic.

Variant evidence
Computational 1

BLOSUM100 score indicates Met to Ile is not typically disruptive

Functional -
Case/Control 4

Seen twice in 128 random alleles (64 individuals), strongly contradicting the rarity of this disease.

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Likely benign

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

Abstract mentions this as having a high allele frequency in the Spanish population, source is unknown (perhaps a meeting abstract?):

http://www.parthen-impact.com/cgi-bin/pco/6_EHA7/public/index.cgi?unit=pub_search_results&form_id=303&abstract_id=1526&fsession=yes
HIGH FRECUENCY OF THE POLYMORPHISM 2151G>T (M717I) OF FANCA GENE IN THE SPANISH POPULATION” Benavente, C. , A. González, M. Mateo, A. Mora, A. Peña, E. del Potro, P. Ropero, C. Caballero, A. Villegas, all from Hospital Clínico San Carlos, Madrid, Spain.

Allele frequency

  • A @ chr16:89838086: 2.2% (233/10758) in EVS
  • A @ chr16:88365586: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 2.2% (233/10758)

Publications
 

Morgan NV, Tipping AJ, Joenje H, Mathew CG. High frequency of large intragenic deletions in the Fanconi anemia group A gene. Am J Hum Genet. 1999 Nov;65(5):1330-41. PubMed PMID: 10521298; PubMed Central PMCID: PMC1288285.

Listed here as 2151G->T, the authors cite it as a nonpathogenic polymorphism.

Genomes
 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr16:89838086

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr16:89838086

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr16:89838086

 

Other external references
 

    dbSNP
  • rs1131660
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • View abstract data
    HIGH FRECUENCY OF THE POLYMORPHISM 2151G>T (M717I) OF FANCA GENE IN THE SPANISH POPULATION. Author: C. ... the molecular pathology of the FANCA gene in twenty-one spanish ...
    parthen-impact.com/cgi-bin/pco/6_EHA7/...&fsession=yes
  • FANCA Mutations
    FANCA. PolyMut. polymorphism. Mutation. 796A>G. Published Name. 796A/G ... FANCA. PolyMut. polymorphism. Mutation. 2151G>T. Published Name. G2195T. Amino acid change. M717I ...
    www.rockefeller.edu/fanconi/mutate/public/faapoly_pub.html
  • Scientific Programme
    Estimation of toxicity of DAL-HD-90 for the adolescents and young adults ... HIGH FRECUENCY OF THE POLYMORPHISM 2151G>T (M717I) OF FANCA GENE IN THE SPANISH POPULATION ...
    parthen-impact.com/cgi-bin/pco/...&form_id=304&session=300

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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