PNPLA3 I148M - 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:

PNPLA3 I148M

(PNPLA3 Ile148Met)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pharmacogenetic

(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

  • G @ chr22:44324727: 19.6% (2110/10758) in EVS
  • G @ chr22:42656059: 23.0% (29/126) in GET-Evidence
  • Frequency shown in summary reports: 19.6% (2110/10758)

Publications
 

Romeo S, Kozlitina J, Xing C, Pertsemlidis A, Cox D, Pennacchio LA, Boerwinkle E, Cohen JC, Hobbs HH. Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet. 2008 Dec;40(12):1461-5. Epub 2008 Sep 25. PubMed PMID: 18820647; PubMed Central PMCID: PMC2597056.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr22:44324727

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr22:44324727

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr22:44324727

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr22:44324727

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom G @ chr22:44324727

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr22:44324727

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr22:44324727

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr22:44324727

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr22:44324727

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr22:44324727

 

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom G @ chr22:44324727

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr22:44324727

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr22:44324727

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr22:44324727

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr22:44324727

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr22:42656060

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr22:42656060

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr22:42656060

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr22:42656060

 

GS12004 - var-GS12004-1100-36-ASM
hom G @ chr22:42656060

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr22:42656060

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr22:42656060

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr22:42656060

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr22:42656060

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr22:42656060

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr22:42656060

 

GS19238 - var-GS19238-1100-36-ASM
het G @ chr22:42656060

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr22:42656060

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr22:42656060

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr22:42656060

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr22:42656060

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr22:42656060

 

NA12878

 

Other external references
 

    dbSNP
  • rs738409
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Fatty Liver]
    In a genome-wide association study this SNP in PNPLA3 gene was strongly associated with increased hepatic fat levels and with hepatic inflammation.
    www.ncbi.nlm.nih.gov/pubmed/18820647
    PolyPhen-2
  • Score: 0.778 (possibly damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in