ERCC6 Q1413R - GET-Evidence

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

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Curation:
Currentness:

ERCC6 Q1413R

(ERCC6 Gln1413Arg)


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 @ chr10:50667105: 18.9% (2032/10758) in EVS
  • C @ chr10:50337110: 15.6% (19/122) in GET-Evidence
  • Frequency shown in summary reports: 18.9% (2032/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr10:50667105

 

 

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr10:50667105

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr10:50667105

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr10:50667105

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr10:50667105

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr10:50667105

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr10:50667105

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr10:50337111

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr10:50337111

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr10:50337111

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr10:50337111

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr10:50337111

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr10:50337111

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr10:50337111

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr10:50337111

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr10:50337111

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr10:50337111

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr10:50337111

 

Other external references
 

    dbSNP
  • rs2228529
    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: 0.004 (benign)
    Web search results (15 hits -- see all)
  • 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 ... R1213G;Q1413R mapping to ERCC6 and I143V and K178R. mapping to MGMT ) were in strong ...
    hmg.oxfordjournals.org/cgi/reprint/16/19/2333.pdf
  • Lung Cancer Genetics - New lung cancer genetics study ...
    NewsRx is the leading source of news and information on Lung Cancer Genetics ... repair (NER): ERCC5 D1104H (p=0.004); ERCC6 G399D (p=0.023), ERCC6 Q1413R (p=0.025), POLE ...
    www.newsrx.com/article.php?articleID=776070
  • Genetic variation in the DNA repair genes is predictive of ...
    ... S1040N mapping to BRCA1 and M1097V, R1213G;Q1413R mapping to ERCC6 and I143V and ... Carrier status for ERCC6 399D was associated with poorer prognosis ...
    hmg.oxfordjournals.org/cgi/content/full/16/19/2333
  • Molecular Analysis of Mutations in the CSB (ERCC6) Gene in ...
    nated "ERCC6" was cloned by its ability to correct the. UV sensitivity of a mutant hamster ... Q1413R, which we presumed to be a silent polymor- phism, the cells ...
    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, ... Q1413R. 2228528. 2228526. 2228527. 4253211. 2229761. 2228529. ERCC8/ CSA ...
    www1.elsevier.com/homepage/sab/oncoserve/cl_mr/hu.pdf
  • Type II- 95%
    ... CMTX1, moderate 11437164 HSD11B2 P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 ... Polymorphism (dbSNP:rs8112811) ERCC6 Q03468 M1097V 1098 VAR_001223 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • Webb, EL (Emily L)
    BioInfoBank Library Webb, EL (Emily L) ... excision repair (NER): ERCC5 D1104H (P = .004); ERCC6 G399D (P = .023), ERCC6 Q1413R (P = .025), POLE (P ...
    lib.bioinfo.pl/auid:4793184
  • EXO1
    023), ERCC6 Q1413R (P = 0.025), POLE (P = 0.014) and base excision repair: APEX1 D148E (P = 0.028); EXO1 E670G (P = 0.007); POLB P242R (P = 0.018) ...
    www.labome.org/gene/human/exo1-9156.html

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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