ERCC6 R1230P - GET-Evidence

Curation:
Currentness:

ERCC6 R1230P

(ERCC6 Arg1230Pro)


Short summary

Probably benign.

Variant evidence
Computational -1

Polyphen 2 predicts “probably damaging”

Functional -
Case/Control 4

Frequency of this variant in the population is highly different from the frequency expected for any variant causal for Cockayne syndrome.

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

Other variants in this gene cause Cockayne Syndrome, which is very rare. GET-Evidence data has an allele frequency of 3.1% for this variant, which is very inconsistent with the rarity of the disease, and so this variant is presumed benign.

Allele frequency

  • G @ chr10:50678317: 7.0% (748/10758) in EVS
  • G @ chr10:50348322: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 7.0% (748/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr10:50678317

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr10:50678317

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het G @ chr10:50678317

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr10:50678317

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr10:50678317

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr10:50348323

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr10:50348323

 

Other external references
 

    dbSNP
  • rs4253211
    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: 0.891 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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