FCAR
Basic information
Region (hg38): 19:54874235-54891420
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 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) | ||
19-54875339-T-C | not specified | Uncertain significance (Apr 18, 2023) | ||
19-54875349-G-C | not specified | Uncertain significance (May 28, 2024) | ||
19-54875362-G-A | not specified | Uncertain significance (Dec 04, 2024) | ||
19-54885239-C-A | not specified | Uncertain significance (Jul 25, 2023) | ||
19-54885297-G-C | not specified | Uncertain significance (Sep 28, 2022) | ||
19-54885414-G-C | not specified | Uncertain significance (Nov 02, 2023) | ||
19-54885423-A-G | not specified | Uncertain significance (Apr 06, 2024) | ||
19-54885426-G-A | not specified | Uncertain significance (Jul 07, 2022) | ||
19-54885438-G-A | not specified | Likely benign (Oct 07, 2024) | ||
19-54885439-C-T | not specified | Uncertain significance (Dec 14, 2021) | ||
19-54885454-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
19-54885474-A-G | not specified | Uncertain significance (Oct 02, 2023) | ||
19-54885489-T-A | not specified | Uncertain significance (Feb 15, 2023) | ||
19-54885514-T-A | not specified | Uncertain significance (Jun 10, 2022) | ||
19-54888016-G-T | not specified | Uncertain significance (Jul 20, 2021) | ||
19-54888039-C-T | not specified | Uncertain significance (Jun 02, 2023) | ||
19-54888055-T-C | not specified | Uncertain significance (Jun 16, 2024) | ||
19-54888139-C-T | not specified | Uncertain significance (Jan 03, 2024) | ||
19-54888167-C-A | not specified | Uncertain significance (Dec 09, 2024) | ||
19-54888208-C-T | not specified | Uncertain significance (Jul 12, 2022) | ||
19-54888225-T-C | not specified | Uncertain significance (Aug 07, 2024) | ||
19-54888282-C-T | not specified | Uncertain significance (Apr 27, 2024) | ||
19-54889666-T-A | not specified | Uncertain significance (Jun 26, 2024) | ||
19-54889670-C-T | not specified | Uncertain significance (Aug 28, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
FCAR | protein_coding | protein_coding | ENST00000355524 | 5 | 16135 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
6.60e-8 | 0.147 | 125619 | 3 | 125 | 125747 | 0.000509 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.657 | 189 | 165 | 1.14 | 0.00000928 | 1870 |
Missense in Polyphen | 46 | 47.39 | 0.97067 | 584 | ||
Synonymous | 0.426 | 60 | 64.3 | 0.932 | 0.00000375 | 557 |
Loss of Function | -0.00896 | 11 | 11.0 | 1.00 | 5.51e-7 | 124 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000555 | 0.000555 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.000218 | 0.000217 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000115 | 0.000114 |
Middle Eastern | 0.000218 | 0.000217 |
South Asian | 0.00312 | 0.00301 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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