ICAM2
Basic information
Region (hg38): 17:64002594-64020634
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 ICAM2 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 | 24 | 30 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 24 | 6 | 0 |
Variants in ICAM2
This is a list of pathogenic ClinVar variants found in the ICAM2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-64002787-C-T | not specified | Likely benign (Dec 19, 2022) | ||
17-64002791-C-T | not specified | Uncertain significance (Dec 11, 2023) | ||
17-64002817-C-T | not specified | Likely benign (Aug 04, 2023) | ||
17-64002860-C-T | not specified | Uncertain significance (Nov 27, 2024) | ||
17-64002861-G-C | not specified | Uncertain significance (Feb 09, 2023) | ||
17-64002868-G-A | not specified | Likely benign (May 06, 2024) | ||
17-64002883-A-G | not specified | Uncertain significance (Aug 22, 2023) | ||
17-64002895-A-T | not specified | Uncertain significance (Jan 08, 2025) | ||
17-64003658-A-G | not specified | Uncertain significance (Apr 22, 2024) | ||
17-64003686-T-A | not specified | Uncertain significance (Aug 11, 2024) | ||
17-64003695-C-T | not specified | Uncertain significance (Dec 27, 2023) | ||
17-64003751-C-T | not specified | Uncertain significance (Mar 20, 2024) | ||
17-64003754-T-C | not specified | Uncertain significance (Apr 09, 2024) | ||
17-64003809-C-T | not specified | Uncertain significance (May 03, 2023) | ||
17-64003862-C-T | not specified | Uncertain significance (Apr 06, 2022) | ||
17-64003872-G-C | not specified | Uncertain significance (Jun 24, 2022) | ||
17-64003898-A-G | not specified | Uncertain significance (Dec 21, 2022) | ||
17-64003920-C-A | not specified | Uncertain significance (Jul 17, 2024) | ||
17-64003947-T-C | not specified | Uncertain significance (Apr 23, 2024) | ||
17-64005119-C-T | not specified | Likely benign (Nov 08, 2022) | ||
17-64005137-C-T | not specified | Likely benign (Jan 03, 2024) | ||
17-64005175-G-A | not specified | Uncertain significance (Jan 17, 2024) | ||
17-64005180-A-T | not specified | Likely benign (Aug 28, 2024) | ||
17-64005224-C-T | not specified | Uncertain significance (May 16, 2022) | ||
17-64005274-T-C | not specified | Uncertain significance (Jul 25, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ICAM2 | protein_coding | protein_coding | ENST00000412356 | 4 | 18041 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000750 | 0.780 | 125728 | 0 | 19 | 125747 | 0.0000756 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.406 | 157 | 172 | 0.913 | 0.0000105 | 1784 |
Missense in Polyphen | 41 | 47.378 | 0.86538 | 541 | ||
Synonymous | 0.555 | 72 | 78.2 | 0.920 | 0.00000521 | 578 |
Loss of Function | 1.04 | 6 | 9.43 | 0.636 | 5.84e-7 | 96 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000326 | 0.000326 |
Finnish | 0.0000931 | 0.0000924 |
European (Non-Finnish) | 0.0000617 | 0.0000615 |
Middle Eastern | 0.000326 | 0.000326 |
South Asian | 0.000131 | 0.000131 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: ICAM proteins are ligands for the leukocyte adhesion protein LFA-1 (integrin alpha-L/beta-2). ICAM2 may play a role in lymphocyte recirculation by blocking LFA-1-dependent cell adhesion. It mediates adhesive interactions important for antigen- specific immune response, NK-cell mediated clearance, lymphocyte recirculation, and other cellular interactions important for immune response and surveillance.;
- Pathway
- Cell adhesion molecules (CAMs) - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Human Complement System;Ebola Virus Pathway on Host;Ebola Virus Pathway on Host;Integrin cell surface interactions;CD209 (DC-SIGN) signaling;C-type lectin receptors (CLRs);Extracellular matrix organization;Innate Immune System;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;Beta2 integrin cell surface interactions
(Consensus)
Recessive Scores
- pRec
- 0.228
Intolerance Scores
- loftool
- 0.764
- rvis_EVS
- -0.23
- rvis_percentile_EVS
- 37.11
Haploinsufficiency Scores
- pHI
- 0.104
- hipred
- N
- hipred_score
- 0.145
- ghis
- 0.393
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.857
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Icam2
- Phenotype
- hematopoietic system phenotype; respiratory system phenotype; immune system phenotype;
Gene ontology
- Biological process
- stimulatory C-type lectin receptor signaling pathway;cell adhesion;extracellular matrix organization;regulation of immune response;cell-cell adhesion
- Cellular component
- uropod;plasma membrane;integral component of plasma membrane;microvillus;membrane;cleavage furrow
- Molecular function
- integrin binding