FCGR1A

Fc gamma receptor Ia, the group of CD molecules|Immunoglobulin like domain containing|Fc receptors

Basic information

Region (hg38): 1:149782671-149791675

Links

ENSG00000150337NCBI:2209OMIM:146760HGNC:3613Uniprot:P12314AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FCGR1A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCGR1A gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
2
clinvar
2
missense
13
clinvar
2
clinvar
15
nonsense
0
start loss
0
frameshift
0
inframe indel
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 13 4 1

Variants in FCGR1A

This is a list of pathogenic ClinVar variants found in the FCGR1A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
1-149782764-G-A Likely benign (May 18, 2018)769529
1-149784064-C-T Likely benign (May 17, 2018)790487
1-149784140-C-G not specified Uncertain significance (Mar 02, 2023)2493732
1-149784224-C-T IGG receptor I, phagocytic, familial deficiency of Uncertain significance (Dec 18, 2024)14826
1-149788393-G-C not specified Uncertain significance (Jul 14, 2024)3514316
1-149788410-G-A not specified Uncertain significance (Aug 28, 2024)3514320
1-149788567-G-A not specified Uncertain significance (Sep 30, 2024)3514314
1-149788581-C-T not specified Uncertain significance (Feb 02, 2024)3094054
1-149790164-C-A not specified Uncertain significance (Jan 19, 2022)2402945
1-149790210-G-A not specified Uncertain significance (Nov 14, 2024)3514315
1-149790230-C-T Peritoneal Gliomatosis Uncertain significance (Aug 01, 2019)691503
1-149790308-C-T not specified Uncertain significance (Oct 20, 2023)3094055
1-149790323-G-C not specified Uncertain significance (May 24, 2023)2520263
1-149790325-G-C not specified Uncertain significance (Nov 03, 2023)3094056
1-149790332-G-T not specified Uncertain significance (Jul 25, 2024)3514319
1-149791297-T-C not specified Uncertain significance (Sep 09, 2024)2361340
1-149791298-G-A not specified Likely benign (Mar 23, 2022)2279690
1-149791327-C-A not specified Uncertain significance (Mar 21, 2023)2511294
1-149791332-C-T not specified Uncertain significance (Sep 01, 2021)2222157
1-149791405-T-C not specified Likely benign (Mar 01, 2024)1285171
1-149791413-C-T not specified Uncertain significance (Oct 12, 2022)2318316
1-149791459-A-G not specified Uncertain significance (Jul 07, 2024)3514318
1-149791461-AAAG-A Benign (Feb 01, 2018)734579
1-149791483-G-T not specified Uncertain significance (Apr 17, 2023)2537094
1-149791485-G-T not specified Uncertain significance (Mar 31, 2023)2531971

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FCGR1Aprotein_codingprotein_codingENST00000369168 69848
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001310.860123711610421247590.00421
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5791501710.8750.000008602410
Missense in Polyphen2646.80.55555721
Synonymous0.3726366.90.9420.00000327739
Loss of Function1.35813.30.6007.18e-7160

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.004480.00424
Ashkenazi Jewish0.0003030.000299
East Asian0.0001670.000163
Finnish0.0005150.000509
European (Non-Finnish)0.006390.00628
Middle Eastern0.0001670.000163
South Asian0.005890.00573
Other0.004560.00444

dbNSFP

Source: dbNSFP

Function
FUNCTION: High affinity receptor for the Fc region of immunoglobulins gamma. Functions in both innate and adaptive immune responses. {ECO:0000269|PubMed:10397749, ECO:0000269|PubMed:10514529, ECO:0000269|PubMed:21965667, ECO:0000269|PubMed:8611682, ECO:0000269|PubMed:9881690}.;
Pathway
Fc gamma R-mediated phagocytosis - Homo sapiens (human);Systemic lupus erythematosus - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);Phagosome - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Leishmaniasis - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Microglia Pathogen Phagocytosis Pathway;Cytokine Signaling in Immune system;FCGR activation;Role of phospholipids in phagocytosis;Fcgamma receptor (FCGR) dependent phagocytosis;Innate Immune System;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;Antigen processing-Cross presentation;Class I MHC mediated antigen processing & presentation;Regulation of actin dynamics for phagocytic cup formation;Interferon gamma signaling;Cross-presentation of soluble exogenous antigens (endosomes);Interferon Signaling (Consensus)

Recessive Scores

pRec
0.265

Haploinsufficiency Scores

pHI
0.101
hipred
N
hipred_score
0.380
ghis
0.500

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.308

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fcgr1
Phenotype
cellular phenotype; immune system phenotype; skeleton phenotype; normal phenotype; hematopoietic system phenotype;

Gene ontology

Biological process
antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent;receptor-mediated endocytosis;phagocytosis, engulfment;immune response;signal transduction;Fc-gamma receptor signaling pathway involved in phagocytosis;regulation of immune response;interferon-gamma-mediated signaling pathway
Cellular component
plasma membrane;integral component of membrane;clathrin-coated endocytic vesicle membrane;early endosome membrane
Molecular function
protein binding;IgG binding