ITGA2-AS1
Basic information
Region (hg38): 5:52930606-52990278
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 ITGA2-AS1 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 | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 3 | |||||
| Total | 0 | 0 | 2 | 1 | 0 |
Variants in ITGA2-AS1
This is a list of pathogenic ClinVar variants found in the ITGA2-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-52932059-A-G | Likely benign (Mar 01, 2022) | |||
| 5-52932060-C-A | not specified | Uncertain significance (Jul 17, 2023) | ||
| 5-52932103-C-T | not specified | Uncertain significance (Mar 20, 2024) | ||
| 5-52933895-T-C | not specified | Uncertain significance (Jun 26, 2023) | ||
| 5-52933919-A-G | not specified | Uncertain significance (Mar 07, 2023) | ||
| 5-52933929-A-G | not specified | Uncertain significance (Jun 05, 2023) | ||
| 5-52933933-G-T | not specified | Uncertain significance (Jul 15, 2021) | ||
| 5-52933964-G-A | not specified | Uncertain significance (Jun 21, 2022) | ||
| 5-52933969-T-G | not specified | Uncertain significance (May 29, 2025) | ||
| 5-52933973-A-C | not specified | Uncertain significance (Feb 26, 2024) | ||
| 5-52937425-A-G | not specified | Uncertain significance (Feb 25, 2025) | ||
| 5-52937491-C-G | not specified | Uncertain significance (May 22, 2025) | ||
| 5-52937498-G-A | not specified | Uncertain significance (Jun 10, 2025) | ||
| 5-52937502-G-C | not specified | Uncertain significance (Dec 07, 2021) | ||
| 5-52939596-A-G | not specified | Uncertain significance (Dec 14, 2023) | ||
| 5-52939621-A-T | not specified | Uncertain significance (Jun 21, 2022) | ||
| 5-52939651-T-C | not specified | Likely benign (Nov 13, 2024) | ||
| 5-52939842-C-T | Likely benign (Aug 15, 2018) | |||
| 5-52939845-C-G | not specified | Uncertain significance (Jul 19, 2023) | ||
| 5-52939886-C-A | not specified | Uncertain significance (Mar 31, 2025) | ||
| 5-52939906-A-G | not specified | Uncertain significance (Mar 31, 2025) | ||
| 5-52944944-C-T | not specified | Uncertain significance (Apr 04, 2025) | ||
| 5-52944945-A-G | Benign (Jul 06, 2018) | |||
| 5-52944985-C-T | not specified | Uncertain significance (Jun 06, 2025) | ||
| 5-52944986-G-A | not specified | Likely benign (May 19, 2025) |
GnomAD
Source:
dbNSFP
Source: