PDE3A-AS1

PDE3A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:20361484-20370262

Links

ENSG00000256879 ∙ ∙ ∙ HGNC:40436 ∙ ∙ ∙ 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 PDE3A-AS1 gene.

• not provided (32 variants)
• Inborn genetic diseases (24 variants)
• not specified (1 variants)
• Brachydactyly-arterial hypertension syndrome (1 variants)
• PDE3A-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDE3A-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			36	10	12	58
Total	0	0	36	10	12

Variants in PDE3A-AS1

This is a list of pathogenic ClinVar variants found in the PDE3A-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
12-20369180-A-AGCGT			Benign (Jun 19, 2021)
12-20369190-CGTGT-C			Benign (Jun 19, 2021)
12-20369190-C-CGT			Benign (Jun 21, 2021)
12-20369279-T-G		PDE3A-related disorder	Benign (Jun 07, 2019)
12-20369289-C-T			Uncertain significance (Jul 17, 2023)
12-20369308-A-G		PDE3A-related disorder	Benign (Sep 13, 2022)
12-20369309-C-G		Inborn genetic diseases	Uncertain significance (Feb 05, 2024)
12-20369318-G-A			Benign (Jan 28, 2025)
12-20369324-C-T			Uncertain significance (Oct 10, 2024)
12-20369325-C-A		Brachydactyly-arterial hypertension syndrome	Uncertain significance (Aug 18, 2020)
12-20369330-C-T		Inborn genetic diseases	Uncertain significance (Apr 13, 2023)
12-20369357-G-A			Uncertain significance (Sep 06, 2024)
12-20369361-G-A		Inborn genetic diseases	Uncertain significance (May 23, 2023)
12-20369364-G-A		Inborn genetic diseases	Uncertain significance (Mar 29, 2023)
12-20369375-C-T		Inborn genetic diseases	Uncertain significance (Mar 13, 2023)
12-20369378-C-A		Brachydactyly-arterial hypertension syndrome	Uncertain significance (Jun 11, 2024)
12-20369386-C-T			Likely benign (Dec 06, 2024)
12-20369387-C-T		Inborn genetic diseases	Uncertain significance (Jun 28, 2022)
12-20369388-C-T		Inborn genetic diseases	Uncertain significance (Sep 03, 2024)
12-20369421-G-T		Inborn genetic diseases	Uncertain significance (Aug 20, 2024)
12-20369425-G-A			Uncertain significance (Jun 01, 2021)
12-20369453-A-G		Inborn genetic diseases	Uncertain significance (Feb 23, 2023)
12-20369460-G-A		Inborn genetic diseases	Uncertain significance (Jan 02, 2025)
12-20369462-A-C		Inborn genetic diseases	Uncertain significance (Jan 15, 2025)
12-20369484-C-T			Uncertain significance (Dec 02, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP