PSMA3-AS1

PSMA3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 14:58265365-58298641

Links

ENSG00000257621 ∙ NCBI:379025 ∙ ∙ HGNC:26445 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PSMA3-AS1 gene.

• not provided (38 variants)
• Inborn genetic diseases (2 variants)
• not specified (1 variants)
• PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC (1 variants)

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	1		24	13	2	40
Total	1	0	24	13	2

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 (Jul 06, 2022)
14-58267498-A-G			Uncertain significance (Jun 20, 2023)
14-58267500-C-A			Likely benign (Nov 02, 2023)
14-58267500-C-T			Likely benign (Jan 08, 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 (Jan 02, 2024)
14-58270411-A-G		PSMA3-related disorder	Benign (Nov 28, 2023)
14-58270423-A-G			Uncertain significance (Jun 03, 2021)
14-58270425-A-G		not specified	Uncertain significance (Dec 18, 2023)
14-58270426-T-C			Uncertain significance (Jul 24, 2021)
14-58270436-C-T			Likely benign (Jun 15, 2023)
14-58270437-G-A			Uncertain significance (May 20, 2023)
14-58270441-T-A			Uncertain significance (Jul 19, 2021)
14-58270442-T-C			Likely benign (Nov 24, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP