ELOVL4 M299V - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

ELOVL4 M299V

(ELOVL4 Met299Val)


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 @ chr6:80626375: 15.0% (1611/10758) in EVS
  • C @ chr6:80683093: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 15.0% (1611/10758)

Publications
 

Genomes
 

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr6:80626375

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr6:80626375

 

 

 

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr6:80683094

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr6:80683094

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr6:80683094

 

GS18508 - var-GS18508-1100-36-ASM
hom C @ chr6:80683094

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr6:80683094

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr6:80683094

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr6:80683094

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr6:80683094

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr6:80683094

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chr6:80683094

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr6:80683094

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr6:80683094

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr6:80683094

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr6:80683094

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr6:80683094

 

Other external references
 

    dbSNP
  • rs3812153
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (15 hits -- see all)
  • CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility ...
    The M299V variant in ELOVL4 is significantly. associated (P ¼ 0.034) ... The M299V variant in ELOVL4 (rs3812153), the Y402H. variant in CFH (rs1061170) and the ...
    hmg.oxfordjournals.org/cgi/reprint/15/21/3206.pdf
  • Diverse Macular Dystrophy Phenotype Caused by a Novel Complex ...
    the exact sequence of individual ELOVL4 alleles in exon 6 in patient ... (M299V) in exon 6 of ELOVL4. The disease chromosome is boxed. Affected status of deceased ...
    www.iovs.org/cgi/reprint/42/13/3331.pdf
  • Diverse Macular Dystrophy Phenotype Caused by a Novel Complex ...
    To assess the frequency of ELOVL4 mutant alleles in the general population, the ... in the ELOVL4 gene sequences in this family was the 973A G (M299V) change in ...
    www.iovs.org/cgi/content/full/42/13/3331
  • CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility ...
    The M299V variant in ELOVL4 is significantly associated (P=0.034) with exudative ARM in ... The M299V variant in ELOVL4 (rs3812153), the Y402H variant in CFH ...
    hmg.oxfordjournals.org/cgi/content/full/15/21/3206
  • Retina International's Scientific Newsletter - Elongation of ...
    M299V (1) References. Bernstein,P.S., Tammur,J., Singh,N., Hutchinson, ... in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. ...
    www.retina-international.org/sci-news/elovlmut.htm
  • Genetic factors of age-related macular degeneration
    ELOVL4 encodes an enzyme presumably involved in the elongation of ... The most common variant encountered was the ELOVL4 M299V in exon 6 (Ayyagari et al., 2001) ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1950336
  • 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
  • Letters to the Editor
    nective tissue in which the elastic fibres of the. skin, eyes, and cardiovascular system ... become calcified, causing a spectrum of disease. involving these three ...
    eyesite.ucsd.edu/retina/KZL/pdf/38_478.pdf
  • GENE DISCOVERY FOR AGE-RELATED MACULAR DEGENERATION by YANG WANG
    ELOVL4 is expressed in photoreceptor cells of the adult retina and plays a role ... The M299V variant of ELOVL4. was significantly associated with AMD (P ...
    etd.ohiolink.edu/send-pdf.cgi/Wang Yang.pdf?...
  • Poster 37 - Evaluation of the ELOVL4 gene in families with ...
    ELOVL4 was considered as an interesting candidate gene for RP25 due ... Both of which (IVS2-99T->C and M299V) have been previously described as non-pathogenic ...
    hgm2001.hgu.mrc.ac.uk/HGM2001/Abstracts/.../hgm0037.htm

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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