NBN E185Q - GET-Evidence

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

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Curation:
Currentness:

NBN E185Q

(NBN Glu185Gln)


Short summary

 

Variant evidence
Computational 3

GVGD: GV 29.27; GD 0.00; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.82);
PolyPhen=benign(0);
Condel=neutral(0.167)
Mutation Tasting prediction: Polymorphism p value: 0.999974; Protein features (might be) affected.

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 @ chr8:90990479: 28.5% (3063/10758) in EVS
  • G @ chr8:91059654: 31.2% (40/128) in GET-Evidence
  • Frequency shown in summary reports: 28.5% (3063/10758)

Publications
 

Lu M, Lu J, Yang X, Yang M, Tan H, Yun B, Shi L. Association between the NBS1 E185Q polymorphism and cancer risk: a meta-analysis. BMC Cancer. 2009 Apr 24;9:124. PubMed PMID: 19393077; PubMed Central PMCID: PMC2680905.

 

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PubMed PMID: 21166880

 

Zheng J, Zhang C, Jiang L, You Y, Liu Y, Lu J, Zhou Y. Functional NBS1 polymorphism is associated with occurrence and advanced disease status of nasopharyngeal carcinoma. Mol Carcinog. 2011 Sep;50(9):689-96. doi: 10.1002/mc.20803. Epub 2011 Jun 7. PubMed PMID: 21656575.

 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr8:90990479

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr8:90990479

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr8:90990479

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr8:90990479

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr8:90990479

 

hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants
het G @ chr8:91059655

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr8:90990479

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424, hu34D5B9 exome
het G @ chr8:90990479

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr8:90990479

 

hu3A8D13 - PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16), CGI sample GS000003289
hom G @ chr8:90990479

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr8:90990479

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants, hu728FFF build 36 substitution variants
het G @ chr8:91059655

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr8:90990479

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr8:90990479

 

huA90CE6 - PGP16 (huA90CE6) build 37, from CGI var (software ver 2.0.2.11), CGI sample GS000006909
hom G @ chr8:90990479

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr8:90990479

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr8:90990479

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr8:90990479

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr8:90990479

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr8:90990479

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom G @ chr8:90990479

 

GS07357 - var-GS07357-1100-36-ASM
hom G @ chr8:91059655

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr8:91059655

 

GS18502 - var-GS18502-1100-36-ASM
het G @ chr8:91059655

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr8:91059655

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr8:91059655

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr8:91059655

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr8:91059655

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr8:91059655

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr8:91059655

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr8:91059655

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr8:91059655

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr8:91059655

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr8:91059655

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr8:91059655

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr8:91059655

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr8:91059655

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr8:91059655

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr8:91059655

 

Other external references
 

    dbSNP
  • rs1805794
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (34 hits -- see all)
  • Polymorphisms in DNA Repair Genes, Smoking, and Bladder ...
    Key Words: bladder • DNA repair SNPs • NBN. Tobacco smoking is the most important and well ... The association with NBN E185Q was limited to ever smokers ...
    cancerres.aacrjournals.org/cgi/content/abstract/69/17/6857
  • Polymorphisms in DNA repair genes, smoking, and bladder ...
    The association with NBN E185Q was limited to ever smokers (interaction P = 0.002) and was strongest for the highest levels of smoking doseand smoking duration. ...
    rob.ox.ac.uk/research/selected-publications/SternEtAl2009
  • LIFE SCIENCES
    NBN E185Q (rs1805794; per-allele OR, 1.09; 95% CI, 1.01 ... with NBN E185Q. was limited to ever smokers (interaction P = 0.002) and was. strongest for ...
    zangani.com/files/.../RodmanRenshawIndustryUpdate9-8-09.pdf
  • LIFE SCIENCES
    During the week of September 6, 2009 (from September 6, 2009 to September 12, 2009) ... pertaining to the oncology sector were reported including: 1. Vical ...
    zangani.com/files/blog/RodmanRenshaw/...
  • Bladder Cancer RSS Page 11
    Bladder Cancer RSS Page 11 ... CI), 1.01–1.19; P = 0.021], NBN E185Q (rs1805794; per-allele OR, 1.09; 95% CI, 1.01–1.18; P = 0.028), and XPC A499V...
    medworm.com/rss/search.php?qu=+...&r=Any&o=d&page=11
  • Association between the NBS1 E185Q polymorphism and cancer ...
    Association between the NBS1 E185Q polymorphism and cancer risk: a meta-analysis. ... Substances: Cell Cycle Proteins. NBN protein, human. Nuclear Proteins ...
    www.ncbi.nlm.nih.gov/pubmed/19393077
  • Gastroschisis Repair RSS Page 22
    Gastroschisis Repair RSS Page 22 ... CI), 1.01–1.19; P = 0.021], NBN E185Q (rs1805794; per-allele OR, 1.09; 95% CI, 1.01–1.18; P = 0.028), and XPC A499V...
    medworm.com/rss/search.php?...&s=Search&r=Any&o=d&page=22
  • The importance of making ends meet: mutations in genes and ...
    The importance of making ends meet: mutations in genes and altered expression of ... variants 657del5, I171V, R215W and E185Q were most commonly analyzed. ...
    www.ncbi.nlm.nih.gov/pubmed/18606567
  • Hereditary Prostate Cancer in Finland
    2. NBN as a candidate gene for familial and sporadic prostate cancer ... 2.1 NBN is not a major susceptibility gene for prostate cancer in Finnish ...
    acta.uta.fi/haekokoversio.php?id=11269
  • Stern MC. Polymorphisms in DNA repair genes, smoking, and ...
    The association with NBN E185Q was limited to ever smokers (interaction P = 0. ... The association with NBN E185Q was limited to ever smokers (interaction P = 0. ...
    pubget.com/paper/19706757?title=Polymorphisms in DNA repa...

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 3

Edit history
 

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