ERCC6 R1230P - GET-Evidence


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 -


Low clinical importance, Uncertain benign

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

Inheritance pattern


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)



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

  • rs4253211
  • GeneTests records for the ERCC6 gene
    Age-related macular degeneration
    Cockayne Syndrome
    Age-Related Macular Degeneration 5
    Cockayne Syndrome Type B
  • 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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