FANCD2 N405S - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

FANCD2 N405S

(FANCD2 Asn405Ser)


You are viewing an old version of this page that was saved on December 6, 2010 at 8:10pm by Genome Importing Robot.

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

  • G @ chr3:10088343: 23.1% (2482/10758) in EVS
  • Frequency shown in summary reports: 23.1% (2482/10758)

Publications
 

Genomes
 

hu9385BA

 

huC30901

 

Deleted in this revision:

huC30901

 

huE80E3D

 

NA18517

 

NA19129

 

snp-27

 

snp-3

 

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: 0.015 (benign)
    Web search results (1 hit -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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