FCAR

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

Basic information

Region (hg38): 19:54874235-54891420

Links

ENSG00000186431NCBI:2204OMIM:147045HGNC:3608Uniprot:P24071AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCAR 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
0
missense
23
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 23 0 0

Variants in FCAR

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

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

Position Type Phenotype Significance ClinVar
19-54874299-A-G not specified Uncertain significance (May 02, 2024)3278263
19-54875339-T-C not specified Uncertain significance (Apr 18, 2023)2510793
19-54875349-G-C not specified Uncertain significance (May 28, 2024)3278260
19-54875362-G-A not specified Uncertain significance (Dec 04, 2024)3514200
19-54885239-C-A not specified Uncertain significance (Jul 25, 2023)2614207
19-54885297-G-C not specified Uncertain significance (Sep 28, 2022)2314145
19-54885414-G-C not specified Uncertain significance (Nov 02, 2023)3093912
19-54885423-A-G not specified Uncertain significance (Apr 06, 2024)2342063
19-54885426-G-A not specified Uncertain significance (Jul 07, 2022)2348344
19-54885438-G-A not specified Likely benign (Oct 07, 2024)3514205
19-54885439-C-T not specified Uncertain significance (Dec 14, 2021)2266794
19-54885454-G-A not specified Uncertain significance (Feb 15, 2023)3093913
19-54885474-A-G not specified Uncertain significance (Oct 02, 2023)3093914
19-54885489-T-A not specified Uncertain significance (Feb 15, 2023)2461252
19-54885514-T-A not specified Uncertain significance (Jun 10, 2022)2295115
19-54888016-G-T not specified Uncertain significance (Jul 20, 2021)2238436
19-54888039-C-T not specified Uncertain significance (Jun 02, 2023)2555488
19-54888055-T-C not specified Uncertain significance (Jun 16, 2024)3278264
19-54888139-C-T not specified Uncertain significance (Jan 03, 2024)3093915
19-54888167-C-A not specified Uncertain significance (Dec 09, 2024)3514207
19-54888208-C-T not specified Uncertain significance (Jul 12, 2022)2300667
19-54888225-T-C not specified Uncertain significance (Aug 07, 2024)3514206
19-54888282-C-T not specified Uncertain significance (Apr 27, 2024)3278262
19-54889666-T-A not specified Uncertain significance (Jun 26, 2024)3514201
19-54889670-C-T not specified Uncertain significance (Aug 28, 2023)2588628

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FCARprotein_codingprotein_codingENST00000355524 516135
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
6.60e-80.14712561931251257470.000509
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6571891651.140.000009281870
Missense in Polyphen4647.390.97067584
Synonymous0.4266064.30.9320.00000375557
Loss of Function-0.008961111.01.005.51e-7124

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005550.000555
Ashkenazi Jewish0.00009920.0000992
East Asian0.0002180.000217
Finnish0.000.00
European (Non-Finnish)0.0001150.000114
Middle Eastern0.0002180.000217
South Asian0.003120.00301
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Binds to the Fc region of immunoglobulins alpha. Mediates several functions including cytokine production. {ECO:0000269|PubMed:12768205}.;
Pathway
Phagosome - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

pRec
0.106

Intolerance Scores

loftool
0.986
rvis_EVS
0.4
rvis_percentile_EVS
76.31

Haploinsufficiency Scores

pHI
0.0514
hipred
N
hipred_score
0.112
ghis
0.458

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.392

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
immune response;neutrophil degranulation
Cellular component
extracellular region;plasma membrane;integral component of plasma membrane;specific granule membrane;tertiary granule membrane;ficolin-1-rich granule membrane
Molecular function
IgA binding