TICAM2-AS1
Basic information
Region (hg38): 5:115602057-115623897
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (42 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TICAM2-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 | 19 | 20 | 42 | |||
Total | 0 | 0 | 19 | 20 | 3 |
Variants in TICAM2-AS1
This is a list of pathogenic ClinVar variants found in the TICAM2-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 |
---|---|---|---|---|
5-115616212-T-A | Likely benign (Apr 10, 2022) | |||
5-115616223-GA-AT | Uncertain significance (Sep 29, 2022) | |||
5-115616228-G-C | not specified | Uncertain significance (Apr 23, 2024) | ||
5-115616229-T-C | Uncertain significance (Mar 25, 2023) | |||
5-115616262-A-G | Likely benign (Aug 07, 2023) | |||
5-115616272-C-T | Likely benign (Apr 06, 2022) | |||
5-115616281-G-A | Likely benign (Dec 26, 2022) | |||
5-115616312-A-G | Uncertain significance (Sep 17, 2023) | |||
5-115616314-T-A | Benign (Jan 31, 2024) | |||
5-115616332-T-G | Likely benign (Feb 27, 2023) | |||
5-115616342-T-A | Uncertain significance (Aug 10, 2022) | |||
5-115616357-C-T | Uncertain significance (Jul 09, 2022) | |||
5-115616387-G-T | Uncertain significance (Jun 29, 2022) | |||
5-115616392-A-G | Likely benign (Apr 18, 2022) | |||
5-115616436-C-G | Uncertain significance (Jan 12, 2024) | |||
5-115616456-A-G | Likely benign (Feb 28, 2022) | |||
5-115616459-T-C | Likely benign (Aug 27, 2022) | |||
5-115616462-T-C | Likely benign (Feb 27, 2022) | |||
5-115616465-G-A | Likely benign (Oct 10, 2021) | |||
5-115620415-T-C | Likely benign (Nov 27, 2023) | |||
5-115620417-G-A | Likely benign (Jul 09, 2022) | |||
5-115620421-A-AT | Benign (Dec 08, 2021) | |||
5-115620421-A-ATT | Benign (Jan 29, 2024) | |||
5-115620428-T-A | Likely benign (Jul 14, 2022) | |||
5-115620437-G-T | Uncertain significance (May 27, 2022) |
GnomAD
Source:
dbNSFP
Source: