FCGR3A F212V - GET-Evidence

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

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Curation:
Currentness:

FCGR3A F212V

(FCGR3A Phe212Val)


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

  • C @ chr1:161514542: 28.5% (3065/10758) in EVS
  • C @ chr1:159781165: 36.7% (33/90) in GET-Evidence
  • Frequency shown in summary reports: 28.5% (3065/10758)

Publications
 

Wu J, Edberg JC, Redecha PB, Bansal V, Guyre PM, Coleman K, Salmon JE, Kimberly RP. A novel polymorphism of FcgammaRIIIa (CD16) alters receptor function and predisposes to autoimmune disease. J Clin Invest. 1997 Sep 1;100(5):1059-70. PubMed PMID: 9276722; PubMed Central PMCID: PMC508280.

 

Zhang W, Gordon M, Schultheis AM, Yang DY, Nagashima F, Azuma M, Chang HM, Borucka E, Lurje G, Sherrod AE, Iqbal S, Groshen S, Lenz HJ. FCGR2A and FCGR3A polymorphisms associated with clinical outcome of epidermal growth factor receptor expressing metastatic colorectal cancer patients treated with single-agent cetuximab. J Clin Oncol. 2007 Aug 20;25(24):3712-8. PubMed PMID: 17704420.

 

Lee YH, Ji JD, Song GG. Associations between FCGR3A polymorphisms and susceptibility to rheumatoid arthritis: a metaanalysis. J Rheumatol. 2008 Nov;35(11):2129-35. Epub 2008 Oct 1. PubMed PMID: 18843786.

 

Tsukahara S, Ikari K, Sato E, Yamanaka H, Hara M, Tomatsu T, Momohara S, Kamatani N. A polymorphism in the gene encoding the Fcgamma IIIA receptor is a possible genetic marker to predict the primary response to infliximab in Japanese patients with rheumatoid arthritis. Ann Rheum Dis. 2008 Dec;67(12):1791-2. PubMed PMID: 19005160.

 

Thabet MM, Huizinga TW, Marques RB, Stoeken-Rijsbergen G, Bakker AM, Kurreeman FA, White SJ, Toes RE, van der Helm-van Mil AH. Contribution of Fcgamma receptor IIIA gene 158V/F polymorphism and copy number variation to the risk of ACPA-positive rheumatoid arthritis. Ann Rheum Dis. 2009 Nov;68(11):1775-80. Epub 2008 Nov 19. Review. PubMed PMID: 19019892.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr1:161514542

 

 

 

hu34D5B9 - hu34D5B9 exome
hom C @ chr1:161514542

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr1:161514542

 

 

hu9385BA

 

huAE6220

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom C @ chr1:161514542

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom C @ chr1:161514542

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het C @ chr1:161514542

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr1:159781166

 

GS06994 - var-GS06994-1100-36-ASM
hom C @ chr1:159781166

 

GS07357 - var-GS07357-1100-36-ASM
hom C @ chr1:159781166

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr1:159781166

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr1:159781166

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr1:159781166

 

GS18505 - var-GS18505-1100-36-ASM
het C @ chr1:159781166

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr1:159781166

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr1:159781166

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr1:159781166

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr1:159781166

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr1:159781166

 

GS19020 - var-GS19020-1100-36-ASM
hom C @ chr1:159781166

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr1:159781166

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr1:159781166

 

GS20502 - var-GS20502-1100-36-ASM
hom C @ chr1:159781166

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr1:159781166

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr1:159781166

 

NA19240

 

Other external references
 

    dbSNP
  • rs396991
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PharmGKB
  • [Lymphoma, B-Cell; Lymphoma, Follicular; Lymphoma, Large-Cell, Diffuse; Lymphoma, Non-Hodgkin]
    [rituximab]
    The FCGR3A valine (V) allele was significantly correlated with a higher complete response rate to R-CHOP (rituximab plus cyclophosphamide/doxorubicin/vincristine/prednisone) compared with the phenylalanine (F) allele in a study of ~200 Korean patients with diffuse large B-cell lymphoma. In a study of Japanese patients with non-hodgekin's lymphoma, the F/F homozygotes had significantly reduced levels of IgG compared to the patients with F/V or V/V alleles after APBSCT and adjuvant rituximab therapy. This variant was also associated with the response rate to rituximab and freedom from progression in patients with follicular lymphoma.
    www.ncbi.nlm.nih.gov/pubmed/12975461; PubMed ID:16609067; PubMed ID:19018870
  • [Arthritis, Rheumatoid]
    [infliximab]
    This variant may be a useful marker to predict response to infliximab in Japanese patients with rheumatoid arthritis.
    www.ncbi.nlm.nih.gov/pubmed/19005160
  • [Arthritis, Rheumatoid]
    This variant is associated with susceptibility to rheumatoid arthritis in meta analysis of 10 studies. In subjects of European descent, the V/V (G/G) genotype carriers was associated with increased risk for rheumatoid arthritis as compared to the F/F genotype carriers. This association was not found in Asians.
    www.ncbi.nlm.nih.gov/pubmed/18843786
  • This variant alters ligand binding ability of the receptor (FCGR3A/CD16) and may predispose individuals carrying the variant to autoimmune diseases. The V/V homozygotes (high-binding) bound more IgG1 and IgG3 than F/F homozygotes.
    www.ncbi.nlm.nih.gov/pubmed/9276722
  • [Colorectal Neoplasms]
    [cetuximab]
    This variant was associated with response to cetuximab in colorectal cancer patients. The F allele carriers was associated with longer progression-free survival.
    www.ncbi.nlm.nih.gov/pubmed/17704420
  • [Arthritis, Rheumatoid]
    This variant was associated with risk to anti-citrullinated peptide antibodies (ACPA)-positive rheumatoid arthritis, and the association increased slightly after correction for CNV of the FcgammaRIIIA-gene. The W genotype was more prevalent in cases than controls.
    www.ncbi.nlm.nih.gov/pubmed/19019892
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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