ERCC6 M1097V - 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:

ERCC6 M1097V

(ERCC6 Met1097Val)


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

  • C @ chr10:50678717: 19.0% (2048/10758) in EVS
  • C @ chr10:50348722: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 19.0% (2048/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr10:50678717

 

 

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr10:50678717

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr10:50678717

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr10:50678717

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr10:50678717

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr10:50678717

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr10:50678717

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr10:50678717

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr10:50348723

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr10:50348723

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr10:50348723

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr10:50348723

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr10:50348723

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr10:50348723

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr10:50348723

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr10:50348723

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr10:50348723

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr10:50348723

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr10:50348723

 

Other external references
 

    dbSNP
  • rs2228526
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the ERCC6 gene
    Age-related macular degeneration
    Cockayne Syndrome
    Age-Related Macular Degeneration 5
    Cockayne Syndrome Type B
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ERCC6
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (38 hits -- see all)
  • High-order interactions among genetic polymorphisms in ...
    Smokers carrying variant alleles XPD D312N, ERCC6 M1097V, CCNH V270A and RAD23B A249V are ... of XPD D312N, CCNH V270A and ERCC6 M1097V in ever smokers. ...
    carcin.oxfordjournals.org/cgi/content/full/28/10/2160
  • High-order interactions among genetic polymorphisms in ...
    3. ERCC6 M1097V. 4. CCNH V270A. 5. RAD23B A249V. Six factors. 1. Smoking Status. 66/100. 41.20 ... 3. ERCC6 M1097V. 4. CCNH V270A. 5. RAD23B A249V. 6. XPC intron9. The ...
    carcin.oxfordjournals.org/cgi/content/full/28/10/2160/TBL3
  • Bladder Cancer - Study findings from University of Texas ...
    NewsRx is the leading source of news and information on Bladder Cancer ... the five-factor model including smoking, CCNH V270A, ERCC6 M1097V, RAD23B A249V and XPD D312N had the ...
    www.newsrx.com/article.php?articleID=866847
  • A Variant of the Cockayne Syndrome B Gene ERCC6 Confers Risk ...
    ERCC6 was first reported as a member of a helicase-like protein family involved in ... the ERCC6 p.M1097V had a significant impact on bladder cancer ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2441604/?tool=pubmed
  • Genetic variation in the DNA repair genes is predictive of ...
    (P 5 0.023), ERCC6 Q1413R (P 5 0.025), POLE (P 5 0.014) and base excision repair: APEX1 ... to BRCA1 and M1097V, R1213G;Q1413R mapping to ERCC6 and I143V and ...
    hmg.oxfordjournals.org/cgi/reprint/16/19/2333.pdf
  • Bladder Cancer Predisposition: A Multigenic Approach to DNA ...
    Am J Hum Genet. 2006 March; 78(3): 464–479. Published online 2006 January 31. PMCID: ... with variant genotypes of CCNH V270A, ERCC6 M1097V, and RAD23B A249V SNPs (node 14 and ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1380289
  • Genetic variation in the DNA repair genes is predictive of ...
    ... to BRCA1 and M1097V, R1213G;Q1413R mapping to ERCC6 and I143V and ... Carrier status for ERCC6 399D was associated with poorer prognosis (HR = 1.27; ...
    hmg.oxfordjournals.org/cgi/content/full/16/19/2333
  • Bladder Cancer Predisposition: A Multigenic Approach to DNA ...
    XPD D312N, ERCC6 M1097V, and RAD23B A249V) all appeared at early ... with variant genotypes of CCNH V270A, ERCC6. M1097V, and RAD23B A249V SNPs (node 14 and ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • NUCELOTIDE EXCISION REPAIR AND PROSTATE CANCER RISK
    ERCC6/ CSB/ CKN2. Excision repair cross- complementing rodent. repair deficiency, ... M1097V. R1213G. R1230P. L1308V. Q1413R. 2228528. 2228526. 2228527. 4253211 ...
    www1.elsevier.com/homepage/sab/oncoserve/cl_mr/hu.pdf
  • Type II- 95%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... phosphorylation site ENPEP Q07075 R213Q 216 VAR_030359 AGC (0.891) PKA (0.932) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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