PLD1 A622S - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

PLD1 A622S

(PLD1 Ala622Ser)


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

  • A @ chr3:171404478: 17.9% (1921/10758) in EVS
  • A @ chr3:172887171: 24.2% (31/128) in GET-Evidence
  • Frequency shown in summary reports: 17.9% (1921/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr3:171404478

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr3:171404478

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr3:171404478

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr3:171404478

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr3:171404478

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr3:171404478

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr3:171404478

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr3:171404478

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr3:171404478

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr3:171404478

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr3:171404478

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr3:171404478

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr3:171404478

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr3:171404478

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr3:171404478

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr3:171404478

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr3:171404478

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr3:172887172

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr3:172887172

 

GS18501 - var-GS18501-1100-36-ASM
hom A @ chr3:172887172

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr3:172887172

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr3:172887172

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr3:172887172

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr3:172887172

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr3:172887172

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr3:172887172

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr3:172887172

 

GS19704 - var-GS19704-1100-36-ASM
hom A @ chr3:172887172

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr3:172887172

 

GS21767 - var-GS21767-1100-36-ASM
het A @ chr3:172887172

 

Other external references
 

    dbSNP
  • rs2290480
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (2 hits -- see all)
  • SNP link
    31 phospholipase D1. PLD1. 2287579. V820M. HapMap: no variation. http://www.ncbi.nlm.nih.gov ... A622S. HAPMAP:0.158. http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs ...
    www.cncr.vu.nl/presynaptic_SNPs.pdf
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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