FANCD2 R1236H - GET-Evidence

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

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Curation:
Currentness:

FANCD2 R1236H

(FANCD2 Arg1236His)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the FANCD2 gene
    Prostate cancer
    Fanconi Anemia
    BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer
    BRCA2 Hereditary Breast/Ovarian Cancer
    BRCA2-Related Fanconi Anemia
    FANCD2-Related Fanconi Anemia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCD2
    PolyPhen-2
  • Score: 0.709 (possibly damaging)
    Web search results (14 hits -- see all)
  • PII: S1097-2765(01)00172-1
    FANCD2 cDNA into FA-D2 cells resulted in functional. mentation group D because ... 3 for R1236H) oligonucleotides were. tions in FANCD2 (PD20, VU202 [the ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • FANCD2 Mutations
    FANCD2. PolyMut. mutation. Mutation. 3707G>A. Published Name. 3707G>A. Amino Acid Change. R1236H ... FANCD2. PolyMut. mutation. Mutation. 904C>T. Published Name. 904C>T. Amino ...
    www.rockefeller.edu/fanconi/mutate/public/fad2mut_pub.html
  • doi:10.1016/S1097-2765(03)00281-8
    Here, we reconstitute FANCD2 monoubiquitination in. while BRCA1 affects the accumulation of FANCD2 at ... K561R mutant as well as R1236H, another FA-associated missense mutant, ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • UNCORRE CTED PROOF
    protein interactions, and the knockdown of fancd2 produced ... phenotype, and that fancd2 suppresses p53-mediated apoptosis. 391. during cellular ...
    www.neuro.uoregon.edu/postle/TelGene2/pdf/fanconipaper.pdf
  • Excel
    FANCD2. FANCD2. FANCD2. 15. Mutation. homozygous IVS4+4A>T. 322delG/ unknown. L554P/ unknown ... S126G/splice; R1236H. S126G/splice; R1236H. 16. Lab. 17. spontaneous ...
    ccr.coriell.org/Excel/NIGMS/fa.xls
  • Methods and compositions for the diagnosis of cancer ...
    ... susceptibilities, defective DNA repair mechanisms and treatments thereof are provided. Among sequences provided here, the FANCD2 gene has been iden ...
    www.freepatentsonline.com/y2003/0093819.html
  • Methods and compositions for the diagnosis of cancer ...
    Methods and compositions for the diagnosis of cancer susceptibilities, defective DNA repair mechanisms and treatments thereof are provided. Among sequences provided
    patents.com/Methods-compositions-diagnosis-cancer-suscept...

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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