FANCD2 P714L - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

FANCD2 P714L

(FANCD2 Pro714Leu)


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

  • T @ chr3:10106532: 14.2% (1529/10758) in EVS
  • T @ chr3:10081531: 24.6% (28/114) in GET-Evidence
  • Frequency shown in summary reports: 14.2% (1529/10758)

Publications
 

Genomes
 

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr3:10106532

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr3:10106532

 

 

 

 

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr3:10081532

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr3:10081532

 

GS18501 - var-GS18501-1100-36-ASM
hom T @ chr3:10081532

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr3:10081532

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr3:10081532

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr3:10081532

 

GS18508 - var-GS18508-1100-36-ASM
hom T @ chr3:10081532

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr3:10081532

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr3:10081532

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr3:10081532

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr3:10081532

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr3:10081532

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr3:10081532

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr3:10081532

 

GS19240 - var-GS19240-1100-36-ASM
hom T @ chr3:10081532

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr3:10081532

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr3:10081532

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr3:10081532

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr3:10081532

 

Other external references
 

    dbSNP
  • rs3864017
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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 (benign)
    Web search results (7 hits -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... PKC (0.583) Polymorphism (dbSNP:rs1217401) 10066790 FANCD2 Q9BXW9 L456R 449 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Type II- 95%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... processing of the precursor 10523031 FANCD2 Q9BXW9 R328Q 331 VAR_025832 AGC (0. ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_95.txt
  • Funktionelle und molekulare Pränataldiagnostik der Fanconi-Anämie
    1.1 Klinische Symptomatik der Fanconi-Anämie. 1. 1. 2 Genetische Grundlagen der Fanconi ... und dort das FANCD2-Protein aktiviert. FANCD2 assoziiert sich im Zell ...
    deposit.ddb.de/...&dok_ext=pdf&filename=97609987x.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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