PSMA3-AS1
Basic information
Region (hg38): 14:58265365-58298641
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 PSMA3-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 | 33 | 25 | 61 | |||
Total | 0 | 0 | 33 | 25 | 3 |
Variants in PSMA3-AS1
This is a list of pathogenic ClinVar variants found in the PSMA3-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 |
---|---|---|---|---|
14-58267454-A-G | Likely benign (Mar 03, 2022) | |||
14-58267468-C-G | Likely benign (Jan 22, 2024) | |||
14-58267470-A-G | Likely benign (Feb 01, 2023) | |||
14-58267471-T-C | Uncertain significance (Nov 01, 2023) | |||
14-58267480-G-C | Uncertain significance (Sep 19, 2023) | |||
14-58267492-C-T | Uncertain significance (Nov 01, 2023) | |||
14-58267493-G-A | Uncertain significance (Jan 29, 2025) | |||
14-58267495-G-T | Uncertain significance (Apr 14, 2024) | |||
14-58267498-A-G | Uncertain significance (Jun 20, 2023) | |||
14-58267500-C-A | Likely benign (Feb 26, 2024) | |||
14-58267500-C-T | Likely benign (Dec 16, 2024) | |||
14-58267501-G-A | Uncertain significance (Jul 12, 2023) | |||
14-58267520-T-C | Uncertain significance (Dec 27, 2021) | |||
14-58267526-T-C | Uncertain significance (Jan 14, 2024) | |||
14-58267526-T-G | Uncertain significance (Jan 08, 2024) | |||
14-58270398-CT-C | Likely benign (Aug 12, 2022) | |||
14-58270402-C-G | Likely benign (May 06, 2022) | |||
14-58270404-CT-C | Benign (Mar 07, 2024) | |||
14-58270411-A-G | PSMA3-related disorder | Benign (Dec 23, 2024) | ||
14-58270423-A-G | Uncertain significance (Jun 03, 2021) | |||
14-58270425-A-G | not specified | Uncertain significance (Nov 11, 2024) | ||
14-58270426-T-C | Uncertain significance (Jul 24, 2021) | |||
14-58270431-C-T | Uncertain significance (Aug 28, 2024) | |||
14-58270436-C-T | Likely benign (Jun 15, 2023) | |||
14-58270437-G-A | Uncertain significance (May 20, 2023) |
GnomAD
Source:
dbNSFP
Source: