ERCC6 G446D - 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 G446D

(ERCC6 Gly446Asp)


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 @ chr10:50732139: 0.9% (102/10758) in EVS
  • T @ chr10:50402144: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (102/10758)

Publications
 

Genomes
 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr10:50732139

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr10:50732139

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr10:50402145

 

NA12878

 

Other external references
 

    dbSNP
  • rs4253047
    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: 0.205 (possibly damaging)
    Web search results (1 hit -- see all)
  • Catalogue of Somatic Mutations in Cancer
    p.G446D. HCC1954. OCA2. p.A773T. HCC1954. CPS1. p.5fs*1. HCC1954. SPOCD1. p. ... ERCC6. p.R1038T. HCC2218. ERCC6. p.E1119Q. HCC2218. ERCC6. p.E1119V. HCC2218. EHMT1. p.Y1142F ...
    sanger.ac.uk/perl/genetics/CGP/cosmic?...&paper_id=21930

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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