BPIFC
Basic information
Region (hg38): 22:32413845-32464484
Previous symbols: [ "BPIL2" ]
Links
Phenotypes
GenCC
Source:
- trichilemmal cyst (Limited), mode of inheritance: AD
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 BPIFC 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 | 14 | 14 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 3 | |||||
Total | 0 | 0 | 14 | 0 | 3 |
Variants in BPIFC
This is a list of pathogenic ClinVar variants found in the BPIFC region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
22-32414349-C-T | not specified | Uncertain significance (Sep 01, 2021) | ||
22-32414380-T-C | not specified | Uncertain significance (Apr 15, 2024) | ||
22-32415928-A-G | not specified | Uncertain significance (Oct 07, 2024) | ||
22-32415932-C-G | not specified | Uncertain significance (Oct 07, 2024) | ||
22-32417148-C-T | not specified | Uncertain significance (Sep 04, 2024) | ||
22-32419376-G-A | not specified | Uncertain significance (Jun 10, 2024) | ||
22-32431359-A-C | not specified | Uncertain significance (Nov 25, 2024) | ||
22-32432387-C-T | not specified | Uncertain significance (Sep 11, 2024) | ||
22-32432447-C-T | not specified | Uncertain significance (Sep 14, 2023) | ||
22-32432479-A-G | not specified | Uncertain significance (Oct 30, 2023) | ||
22-32433729-A-C | not specified | Uncertain significance (Mar 28, 2024) | ||
22-32433730-C-T | not specified | Uncertain significance (May 03, 2023) | ||
22-32433753-T-C | not specified | Uncertain significance (May 31, 2023) | ||
22-32435784-T-G | not specified | Uncertain significance (Oct 01, 2024) | ||
22-32435835-G-A | not specified | Uncertain significance (Oct 01, 2024) | ||
22-32435843-G-T | not specified | Uncertain significance (Oct 29, 2021) | ||
22-32435877-C-T | not specified | Uncertain significance (Jan 09, 2024) | ||
22-32442700-G-A | not specified | Uncertain significance (Sep 11, 2024) | ||
22-32442716-C-A | not specified | Uncertain significance (Mar 27, 2023) | ||
22-32445713-G-GA | Benign (Dec 29, 2023) | |||
22-32445713-G-GAA | Benign (Jan 08, 2024) | |||
22-32445713-G-GAAA | Benign (Jan 08, 2024) | |||
22-32445863-C-T | not specified | Uncertain significance (Oct 31, 2023) | ||
22-32445873-G-C | not specified | Uncertain significance (Jun 04, 2024) | ||
22-32445886-T-A | not specified | Uncertain significance (Sep 11, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
BPIFC | protein_coding | protein_coding | ENST00000397452 | 15 | 50638 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.59e-7 | 0.961 | 125410 | 0 | 337 | 125747 | 0.00134 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.524 | 247 | 271 | 0.910 | 0.0000139 | 3313 |
Missense in Polyphen | 85 | 98.086 | 0.86659 | 1228 | ||
Synonymous | 0.522 | 100 | 107 | 0.936 | 0.00000621 | 982 |
Loss of Function | 1.99 | 15 | 25.9 | 0.578 | 0.00000128 | 310 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00195 | 0.00194 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0120 | 0.0120 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000186 | 0.000185 |
Middle Eastern | 0.0120 | 0.0120 |
South Asian | 0.00170 | 0.00170 |
Other | 0.000653 | 0.000652 |
dbNSFP
Source:
Recessive Scores
- pRec
- 0.0988
Intolerance Scores
- loftool
- rvis_EVS
- 0.89
- rvis_percentile_EVS
- 89.24
Haploinsufficiency Scores
- pHI
- 0.150
- hipred
- N
- hipred_score
- 0.173
- ghis
- 0.457
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bpifc
- Phenotype
Gene ontology
- Biological process
- Cellular component
- extracellular space
- Molecular function
- lipopolysaccharide binding;phospholipid binding