PDE2A-AS2

PDE2A antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 11:72584509-72588211

Links

ENSG00000256633 ∙ NCBI:105369378 ∙ ∙ HGNC:40434 ∙ ∙ ∙ 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 PDE2A-AS2 gene.

• not provided (25 variants)
• Inborn genetic diseases (3 variants)
• Intellectual developmental disorder with paroxysmal dyskinesia or seizures (2 variants)
• 6 conditions (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDE2A-AS2 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	2		9	15	3	29
Total	2	0	9	15	3

Variants in PDE2A-AS2

This is a list of pathogenic ClinVar variants found in the PDE2A-AS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-72584539-C-T			Benign (Dec 16, 2024)
11-72584567-G-T			Likely benign (Jul 08, 2021)
11-72584588-G-C			Likely benign (Jun 28, 2021)
11-72584639-G-C			Likely benign (Jul 01, 2022)
11-72584649-T-C		Intellectual developmental disorder with paroxysmal dyskinesia or seizures	Pathogenic (Jan 21, 2021)
11-72584657-G-A			Likely benign (Dec 06, 2022)
11-72584666-C-G		Inborn genetic diseases	Uncertain significance (Sep 26, 2023)
11-72584690-C-T			Benign/Likely benign (Sep 01, 2024)
11-72584707-C-A		Inborn genetic diseases	Uncertain significance (Jun 07, 2024)
11-72584741-A-AG			Likely benign (Nov 21, 2022)
11-72584748-G-A			Likely benign (Jan 13, 2025)
11-72584862-A-G			Benign (Jan 30, 2024)
11-72584890-C-G			Likely benign (Oct 24, 2023)
11-72584902-C-T			Likely benign (Jul 06, 2022)
11-72584914-C-T			Likely benign (Feb 06, 2023)
11-72584916-C-T		Inborn genetic diseases	Uncertain significance (Nov 28, 2023)
11-72584924-T-C		Inborn genetic diseases	Uncertain significance (Feb 05, 2024)
11-72584950-G-A			Uncertain significance (Jul 19, 2022)
11-72585356-G-C			Likely benign (Oct 30, 2023)
11-72585360-G-A			Likely benign (Mar 16, 2024)
11-72585400-C-T			Likely benign (Jun 28, 2022)
11-72585401-G-A			Uncertain significance (Jul 21, 2021)
11-72585430-G-C			Uncertain significance (Jul 13, 2022)
11-72585447-G-A			Likely benign (Jan 24, 2023)
11-72585545-T-C			Likely benign (Jul 30, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP