PDE11A-AS1

PDE11A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:177652132-177723289

Links

ENSG00000229941 ∙ NCBI:105373764 ∙ ∙ HGNC:40433 ∙ ∙ ∙ 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 PDE11A-AS1 gene.

• not provided (16 variants)
• Pigmented nodular adrenocortical disease, primary, 2 (10 variants)
• Inborn genetic diseases (8 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDE11A-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	21	5	8	35
Total	0	1	21	5	8

Variants in PDE11A-AS1

This is a list of pathogenic ClinVar variants found in the PDE11A-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
2-177663872-C-A			Benign (Dec 31, 2019)
2-177663880-T-C			Benign/Likely benign (Dec 31, 2019)
2-177663894-A-G		Pigmented nodular adrenocortical disease, primary, 2	Uncertain significance (Oct 03, 2019)
2-177663901-C-G		not specified	Uncertain significance (Nov 17, 2023)
2-177663913-G-A		not specified	Uncertain significance (Feb 13, 2023)
2-177663913-G-C			Benign (Aug 20, 2020)
2-177663932-G-T		not specified	Uncertain significance (May 02, 2024)
2-177663936-C-T		not specified	Uncertain significance (Oct 12, 2022)
2-177663975-C-T		Pigmented nodular adrenocortical disease, primary, 2	Benign (Sep 05, 2021)
2-177669524-C-G		not specified	Uncertain significance (Oct 12, 2021)
2-177669542-A-G		not specified	Uncertain significance (Apr 11, 2023)
2-177669596-A-G		Pigmented nodular adrenocortical disease, primary, 2	Benign (Sep 05, 2021)
2-177675473-C-T			Likely benign (Jun 14, 2018)
2-177675475-G-GT			Uncertain significance (Nov 16, 2022)
2-177675506-C-T		Pigmented nodular adrenocortical disease, primary, 2	Uncertain significance (May 15, 2023)
2-177675519-C-G			Likely benign (Dec 31, 2019)
2-177675565-A-G		Pigmented nodular adrenocortical disease, primary, 2	Benign (Sep 05, 2021)
2-177680827-G-A		Pigmented nodular adrenocortical disease, primary, 2	Uncertain significance (Oct 11, 2022)
2-177680861-G-A		PDE11A-related disorder	Benign (Dec 31, 2019)
2-177680886-A-G			Uncertain significance (Oct 14, 2022)
2-177680895-G-A		not specified	Uncertain significance (May 14, 2024)
2-177697337-G-C		PDE11A-related disorder	Uncertain significance (Jun 24, 2024)
2-177697341-A-G		Pigmented nodular adrenocortical disease, primary, 2	Uncertain significance (Feb 27, 2019)
2-177697343-C-T		PDE11A-related disorder	Benign (Apr 04, 2018)
2-177697344-G-A		not specified	Uncertain significance (Jan 10, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP