ABCC6 R265G - 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:

ABCC6 R265G

(ABCC6 Arg265Gly)


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 @ chr16:16302586: 0.9% (102/10758) in EVS
  • C @ chr16:16210086: 7.3% (9/124) in GET-Evidence
  • Frequency shown in summary reports: 0.9% (102/10758)

Publications
 

Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet. 2001 Oct;69(4):749-64. Epub 2001 Aug 31. Erratum in: Am J Hum Genet 2002 Aug;71(2):448. Am J Hum Genet 2001 Dec;69(6):1413. PubMed PMID: 11536079; PubMed Central PMCID: PMC1226061.

Listed as a neutral (non-pathogenic) variation.

Genomes
 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr16:16302586

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr16:16302586

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr16:16302586

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr16:16210087

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr16:16210087

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr16:16210087

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr16:16210087

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr16:16210087

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr16:16210087

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr16:16210087

 

Other external references
 

    dbSNP
  • rs72657698
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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