CEACAM4
Basic information
Region (hg38): 19:41619015-41627074
Previous symbols: [ "CGM7" ]
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 CEACAM4 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 | 17 | 19 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 17 | 2 | 0 |
Variants in CEACAM4
This is a list of pathogenic ClinVar variants found in the CEACAM4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-41619337-A-G | not specified | Uncertain significance (Apr 08, 2024) | ||
19-41619340-A-G | not specified | Uncertain significance (Oct 16, 2023) | ||
19-41619356-C-T | not specified | Uncertain significance (Feb 11, 2025) | ||
19-41619680-G-A | not specified | Uncertain significance (Aug 02, 2021) | ||
19-41620595-G-A | not specified | Uncertain significance (Apr 01, 2024) | ||
19-41621694-C-T | not specified | Uncertain significance (Aug 14, 2024) | ||
19-41621742-C-G | not specified | Uncertain significance (Jun 25, 2024) | ||
19-41625631-C-T | not specified | Uncertain significance (Jan 03, 2024) | ||
19-41625637-C-T | not specified | Uncertain significance (Mar 21, 2024) | ||
19-41625646-C-T | not specified | Uncertain significance (Feb 05, 2024) | ||
19-41625651-A-G | not specified | Uncertain significance (May 13, 2024) | ||
19-41625685-G-C | not specified | Uncertain significance (Jan 17, 2024) | ||
19-41625732-C-T | not specified | Uncertain significance (Jun 29, 2023) | ||
19-41625739-T-A | not specified | Uncertain significance (Jun 30, 2023) | ||
19-41625810-G-A | not specified | Uncertain significance (Aug 15, 2023) | ||
19-41625919-A-G | not specified | Likely benign (Jul 30, 2024) | ||
19-41625936-G-A | not specified | Likely benign (Sep 15, 2021) | ||
19-41625939-T-C | not specified | Uncertain significance (Apr 07, 2022) | ||
19-41626939-G-A | not specified | Uncertain significance (Aug 16, 2021) | ||
19-41626957-G-C | not specified | Uncertain significance (Jan 23, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CEACAM4 | protein_coding | protein_coding | ENST00000221954 | 7 | 8099 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
6.12e-8 | 0.257 | 124743 | 17 | 961 | 125721 | 0.00390 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.747 | 157 | 133 | 1.18 | 0.00000685 | 1527 |
Missense in Polyphen | 22 | 19.697 | 1.1169 | 278 | ||
Synonymous | -0.916 | 67 | 58.1 | 1.15 | 0.00000347 | 527 |
Loss of Function | 0.424 | 12 | 13.7 | 0.876 | 9.36e-7 | 128 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0549 | 0.0541 |
Ashkenazi Jewish | 0.000101 | 0.0000993 |
East Asian | 0.000220 | 0.000217 |
Finnish | 0.0000464 | 0.0000462 |
European (Non-Finnish) | 0.000169 | 0.000167 |
Middle Eastern | 0.000220 | 0.000217 |
South Asian | 0.000164 | 0.000163 |
Other | 0.00316 | 0.00310 |
dbNSFP
Source:
- Function
- FUNCTION: Granulocyte orphan receptor that acts as an trigger efficient phagocytosis of attached particles. {ECO:0000269|PubMed:25567962}.;
Recessive Scores
- pRec
- 0.0836
Intolerance Scores
- loftool
- 0.835
- rvis_EVS
- 1.02
- rvis_percentile_EVS
- 90.92
Haploinsufficiency Scores
- pHI
- 0.0535
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.473
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.00946
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- phagocytosis
- Cellular component
- integral component of plasma membrane;membrane
- Molecular function