YEATS2-AS1
Basic information
Region (hg38): 3:183806457-183810783
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (4 variants)
- Epilepsy, familial adult myoclonic, 4 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the YEATS2-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 | 5 | |||||
Total | 0 | 0 | 5 | 0 | 0 |
Variants in YEATS2-AS1
This is a list of pathogenic ClinVar variants found in the YEATS2-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 |
---|---|---|---|---|
3-183806882-C-A | not specified | Uncertain significance (Jun 16, 2024) | ||
3-183806890-C-G | not specified | Uncertain significance (Mar 05, 2025) | ||
3-183806980-C-T | not specified | Uncertain significance (Jan 20, 2025) | ||
3-183806983-A-G | not specified | Uncertain significance (Nov 24, 2024) | ||
3-183807006-A-G | not specified | Uncertain significance (Jan 12, 2024) | ||
3-183807041-C-G | not specified • Epilepsy, familial adult myoclonic, 4 | Conflicting classifications of pathogenicity (Apr 22, 2022) | ||
3-183807075-G-A | Epilepsy, familial adult myoclonic, 4 | Uncertain significance (Dec 03, 2021) | ||
3-183808040-C-T | not specified | Uncertain significance (Jun 29, 2023) | ||
3-183808051-G-A | not specified | Uncertain significance (Nov 18, 2022) | ||
3-183808064-G-A | not specified | Likely benign (Dec 12, 2023) | ||
3-183809097-G-A | Epilepsy, familial adult myoclonic, 4 | Uncertain significance (Aug 12, 2021) | ||
3-183810476-A-G | not specified | Uncertain significance (Jul 21, 2021) | ||
3-183810479-C-G | not specified | Uncertain significance (Mar 14, 2025) | ||
3-183810568-G-C | not specified | Uncertain significance (Feb 27, 2025) | ||
3-183810576-A-G | not specified | Uncertain significance (Aug 02, 2024) |
GnomAD
Source:
dbNSFP
Source: