FANCE A502T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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FANCE A502T

(FANCE Ala502Thr)


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Short summary

 

Variant evidence
Computational -
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

  • A @ chr6:35430686: 15.2% (1640/10758) in EVS
  • A @ chr6:35538663: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 15.2% (1640/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr6:35430686

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom A @ chr6:35430686

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr6:35538664

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr6:35538664

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr6:35538664

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr6:35538664

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr6:35538664

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr6:35538664

 

GS19026 - var-GS19026-1100-36-ASM
het A @ chr6:35538664

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr6:35538664

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr6:35538664

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr6:35538664

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr6:35538664

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr6:35538664

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr6:35538664

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr6:35538664

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr6:35538664

 

Added in this revision:

GS19704 - var-GS19704-1100-36-ASM
het A @ chr6:35538664

 

NA19129

 

NA19240

 

snp-27

 

snp-29

 

snp-30

 

snp-31

 

Other external references
 

    dbSNP
  • rs9462088
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.003 (benign)
    Web search results (14 hits -- see all)
  • Insights into Fanconi Anaemia from the structure of human FANCE
    The FANCE protein plays an essential role in the FA process of DNA ... in the human FANCE sequence: S356G, R365K, R371W, A502T (Fanconi Anaemia Mutation ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1865054
  • Insights into Fanconi Anaemia from the structure of human ...
    FANCE is essential for FANCC accumulation in the nucleus and assembly of the FA core complex (21,22) ... the human FANCE sequence: S356G, R365K, R371W, A502T (Fanconi Anaemia ...
    nar.oxfordjournals.org/cgi/content/full/35/5/1638
  • Evaluation of Fanconi Anemia Genes in Familial Breast Cancer ...
    FANCA, FANCC, FANCD2, FANCE, FANCF, and FANCG were screened for small intragenic mutations by conformation ... FANCC V60I, FANCC E417L; FANCD2 T896M; FANCE R365K, FANCE A502T; ...
    cancerres.aacrjournals.org/cgi/content/full/63/24/8596
  • FANCE Mutations
    FANCE. PolyMut. mutation. Mutation. IVS5-8G>A. Published Name. IVS5-8G>A ... FANCE. PolyMut. mutation. Mutation. 1504G>A. Published Name. 1504G>A. Amino Acid Change. A502T ...
    www.rockefeller.edu/fanconi/mutate/public/faemut_pub.html
  • Genetic variation in the DNA repair genes is predictive of ...
    While the association between BRCA2 R2034C and OS was based on small number of observations, the association with FANCE A502T appears relatively robust. DISCUSSION ...
    hmg.oxfordjournals.org/cgi/content/full/16/19/2333
  • UNCORRE CTED PROOF
    the location of Zv4_scaffold696 containing a portion of fance. ... confirming the presence of Fance in pufferfish. 473. Two putative nuclear localization ...
    www.neuro.uoregon.edu/postle/TelGene2/pdf/fanconipaper.pdf
  • Genetic variation in the DNA repair genes is predictive of ...
    FANCA FANCD2, FANCE, WRN; other conserved DNA. damage response genes, ATR, CHEK1, HUS1, ... vations, the association with FANCE A502T appears relatively ...
    hmg.oxfordjournals.org/cgi/reprint/16/19/2333.pdf
  • Brca2 R2034c - Look It Up - UK Search
    While the association between BRCA2 R2034C and OS was based on small number of observations, the association with FANCE A502T appears relatively robust. ...
    www.lookitup.co.uk/brca2-r2034c.html
  • Catalogue of Somatic Mutations in Cancer
    p.A502T(1) Insertions. Position. Mutation(n) No Insertions in Current ... Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK Tel:+44 (0)1223 ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?action=bygene&ln=DDX3X

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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