ERCC6 G399D - 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 G399D

(ERCC6 Gly399Asp)


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 @ chr10:50732280: 16.1% (1728/10758) in EVS
  • T @ chr10:50402285: 17.2% (22/128) in GET-Evidence
  • Frequency shown in summary reports: 16.1% (1728/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr10:50732280

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr10:50732280

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr10:50732280

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr10:50732280

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr10:50732280

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr10:50732280

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het T @ chr10:50732280

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr10:50732280

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr10:50732280

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr10:50732280

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chr10:50732280

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr10:50732280

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr10:50732280

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr10:50732280

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr10:50732280

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr10:50402286

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr10:50402286

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr10:50402286

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr10:50402286

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr10:50402286

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr10:50402286

 

GS19025 - var-GS19025-1100-36-ASM
het T @ chr10:50402286

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr10:50402286

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr10:50402286

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr10:50402286

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr10:50402286

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr10:50402286

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr10:50402286

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr10:50402286

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr10:50402286

 

Other external references
 

    dbSNP
  • rs2228528
    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 (28 hits -- see all)
  • Genetic variation in the DNA repair genes is predictive of ...
    two repair pathways—nucleotide excision repair (NER): ERCC5 D1104H (P 5 0.004); ERCC6 G399D (P 5 0.023), ERCC6 Q1413R (P 5 0.025), POLE (P 5 0. ...
    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 ... pathways--nucleotide excision repair (NER): ERCC5 D1104H (p=0.004); ERCC6 G399D ...
    www.newsrx.com/article.php?articleID=776070
  • Genetic variation in the DNA repair genes is predictive of ...
    Previous Article | Next Article. Human Molecular Genetics 2007 16(19):2333-2340; doi:10. ... excision repair (NER): ERCC5 D1104H (P = 0.004); ERCC6 G399D (P ...
    hmg.oxfordjournals.org/cgi/content/short/16/19/2333
  • Blood -- Scan of 977 nonsynonymous SNPs in CLL4 trial ...
    Prepublished online as a Blood First Edition Paper on November 15, ... status for ERCC5 H1104D and ERCC6 G399D variant genotypes were both associated with ...
    bloodjournal.hematologylibrary.org/cgi/content/full/.../1625
  • NUCELOTIDE EXCISION REPAIR AND PROSTATE CANCER RISK
    ERCC6/ CSB/ CKN2. Excision repair cross- complementing rodent. repair deficiency, ... 16 G399D. M1097V. R1213G. R1230P. L1308V. Q1413R. 2228528. 2228526. 2228527 ...
    www1.elsevier.com/homepage/sab/oncoserve/cl_mr/hu.pdf
  • CiteULike: Genetic variation in the DNA repair genes is ...
    CiteULike is a free online bibliography manager. Register and you can start organising ... D1104H (P = 0.004); ERCC6 G399D (P = 0.023), ERCC6 Q1413R (P = 0.025) ...
    www.citeulike.org/user/massivemayhem/article/1655123
  • Webb, EL (Emily L)
    BioInfoBank Library Webb, EL (Emily L) ... D1104H (P = .004); ERCC6 G399D (P = .023), ERCC6 Q1413R (P = .025), POLE (P = .014) and base excision repair: ...
    lib.bioinfo.pl/auid:4793184
  • Blood -- Sellick et al. 111 (3): 1625 Table 3
    Leukocyte immunoglobulin-like receptor, subfamily A member 4 ... ERCC6. G399D. rs2228528. G. 299. 1.35. 1.05-1.73 .021. Low-density lipoprotein receptor–related ...
    bloodjournal.hematologylibrary.org/cgi/content-nw/full/...

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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