BLM P868L - 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.

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Curation:
Currentness:

BLM P868L

(BLM Pro868Leu)


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 @ chr15:91326099: 6.8% (727/10756) in EVS
  • T @ chr15:89127102: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 6.8% (727/10756)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr15:91326099

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr15:91326099

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr15:91326099

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr15:89127103

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr15:89127103

 

Other external references
 

    dbSNP
  • rs11852361
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.595 (possibly damaging)
    Web search results (12 hits -- see all)
  • Colorectal Cancer and Polymorphisms in DNA Repair Genes WRN ...
    Colorectal Cancer and Polymorphisms in DNA Repair Genes WRN, RMI1, and BLM ... with CRC, the association of BLM P868L with rectal cancer risk requires further ...
    carcin.oxfordjournals.org/cgi/content/short/bgp293v1
  • Colorectal Cancer and Polymorphisms in DNA Repair Genes WRN ...
    Colorectal Cancer and Polymorphisms in DNA Repair Genes WRN, RMI1, and BLM ... with CRC, the association of BLM P868L with rectal cancer risk requires further ...
    carcin.oxfordjournals.org/cgi/content/short/bgp293v2?rss=1
  • Frank, B (Bernd)
    Frank, B (Bernd) :: The effects of proprioceptive stimulation on ... However, we detected a significant association of BLM P868L with an increased rectal cancer risk (OR = 1.29, ...
    lib.bioinfo.pl/auid:82487
  • Gastronet - Aggiornamenti in... - Dettaglio
    Colorectal Cancer and Polymorphisms in DNA Repair Genes WRN, RMI1, and BLM. ... with CRC, the association of BLM P868L with rectal cancer risk requires further ...
    gastronet.it/scientifico/aggiornamenti/dett.html?...&data=13
  • Genetic variation in the DNA repair genes is predictive of ...
    Carriers of BLM P868L had a poorer prognosis (HR = 1.27; 95% CI: 1.01 ... Kaplan–Meier curves for lung cancer patients according to BLM P868L genotype. ...
    hmg.oxfordjournals.org/cgi/content/full/16/19/2333
  • Genetic variation in the DNA repair genes is predictive of ...
    Carriers of BLM P868L. had a poorer prognosis (HR ¼ 1.27; 95% CI: 1.01 ... 4. Kaplan – Meier curves for lung cancer patients according to BLM ...
    hmg.oxfordjournals.org/cgi/reprint/16/19/2333.pdf
  • Transfection of BLM into Cultured Bloom Syndrome Cells ...
    codes the nuclear protein BLM, which when absent, as. it is from most BS cells, results in ... BLM-transfected fibroblast clones that expressed high- est levels of ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs11852361*BLM NM_000057 NP_000048*P868L*Bloom syndrome ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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