ZFYVE26 C1457Y - 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:

ZFYVE26 C1457Y

(ZFYVE26 Cys1457Tyr)


Short summary

 

Variant evidence
Computational 2

Variant Effect Predictor (Ensembl ):
SIFT=deleterious(0.04);
PolyPhen=benign(0);
Condel=deleterious(0.960)
Mutation Tasting Prediction: Polymorphism p value: 0.630456; no protein features affected.
SIFT: Tolerated 0.30
GVGD: GV 193.72; GD 0.00; Class C0
Multi-alignment of Q68DK2.3 zinc finger, FYVE domain containing 26, isoform CRA_b [Homo sapiens] with: XP_001138003.1 3 [Pan troglodytes] XP_003263647.1 [Nomascus leucogenys] XP_002824915.1 [Pongo abelii] XP_001107907.1 [Macaca mulatta] XP_002824916.1 [Pongo abelii] XP_002805157.1 [Macaca mulatta] XP_002807291.1 [Callithrix jacchus] XP_001500111.2 [Equus caballus] XP_001926176.1 [Sus scrofa] XP_002917066.1 [Ailuropoda melanoleuca]

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

  • T @ chr14:68249499: 26.1% (2810/10758) in EVS
  • T @ chr14:67319251: 18.3% (23/126) in GET-Evidence
  • Frequency shown in summary reports: 26.1% (2810/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr14:68249499

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr14:68249499

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr14:68249499

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr14:68249499

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr14:68249499

 

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr14:68249499

 

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr14:68249499

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr14:68249499

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr14:68249499

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr14:68249499

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr14:68249499

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr14:68249499

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr14:68249499

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr14:68249499

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom T @ chr14:68249499

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr14:68249499

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr14:68249499

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr14:67319252

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr14:67319252

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr14:67319252

 

GS19648 - var-GS19648-1100-36-ASM
hom T @ chr14:67319252

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr14:67319252

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr14:67319252

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr14:67319252

 

Other external references
 

    dbSNP
  • rs2235967
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.005 (benign)
    Web search results (7 hits -- see all)
  • 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 = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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