PCSK9 G670E - GET-Evidence

Curation:
Currentness:

PCSK9 G670E

(PCSK9 Gly670Glu)


Short summary

This variant is likely benign.

Variant evidence
Computational 3
Functional -
Case/Control 5

The Gly at this position is the more rare change. Lakoski at all did not provide case control data for individuals homozygous for Gly only hetrozygous and homozygous for Glu. See also PCSK9 G670G.

See Lakoski SG et al. 2009 (19351729).

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, benign

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr1:55529187: 88.8% (9556/10758) in EVS
  • A @ chr1:55301774: 82.3% (79/96) in GET-Evidence
  • Frequency shown in summary reports: 88.8% (9556/10758)

Publications
 

Lakoski SG, Lagace TA, Cohen JC, Horton JD, Hobbs HH. Genetic and metabolic determinants of plasma PCSK9 levels. J Clin Endocrinol Metab. 2009 Jul;94(7):2537-43. Epub 2009 Apr 7. PubMed PMID: 19351729; PubMed Central PMCID: PMC2708952.

Individuals hetrogyous and/or homozygous for Gly670Glu have no clinical association with changes in plasma PCSK9 levels. The authors, however, did not report on the effect of the rarer Gly670Gly homozygous variant.

Genomes
 

 

hu0D879F

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom A @ chr1:55529187

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom A @ chr1:55529187

 

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chr1:55529187

 

 

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr1:55301775

 

GS06994 - var-GS06994-1100-36-ASM
hom A @ chr1:55301775

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr1:55301775

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr1:55301775

 

GS12004 - var-GS12004-1100-36-ASM
hom A @ chr1:55301775

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chr1:55301775

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr1:55301775

 

GS18508 - var-GS18508-1100-36-ASM
hom A @ chr1:55301775

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr1:55301775

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr1:55301775

 

GS18537 - var-GS18537-1100-36-ASM
hom A @ chr1:55301775

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr1:55301775

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr1:55301775

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr1:55301775

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr1:55301775

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr1:55301775

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr1:55301775

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr1:55301775

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr1:55301775

 

GS19648 - var-GS19648-1100-36-ASM
hom A @ chr1:55301775

 

GS19649 - var-GS19649-1100-36-ASM
hom A @ chr1:55301775

 

GS19670 - var-GS19670-1100-36-ASM
hom A @ chr1:55301775

 

GS19703 - var-GS19703-1100-36-ASM
hom A @ chr1:55301775

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr1:55301775

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr1:55301775

 

GS19834 - var-GS19834-1100-36-ASM
hom A @ chr1:55301775

 

GS20502 - var-GS20502-1100-36-ASM
hom A @ chr1:55301775

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chr1:55301775

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr1:55301775

 

Other external references
 

    dbSNP
  • rs505151
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (17 hits -- see all)
  • DRx_PI_PathHunter_HEK_293_PCSK9_93-0440C1_REV1
    Detection Kit (93-0273) for measuring secreted PCSK9 [NM_174936 (V474I and. G670E) ... termed ProLabel, is expressed as a fusion protein to a target of interest (PCSK9) ...
    discoverx.com/proteases/literature/cell-based/...

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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