PDYN-AS1

PDYN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:1947246-2030028

Links

ENSG00000233896 ∙ NCBI:727993 ∙ ∙ HGNC:53462 ∙ ∙ ∙ 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 PDYN-AS1 gene.

• not provided (93 variants)
• Spinocerebellar ataxia type 23 (74 variants)
• not specified (19 variants)
• Autosomal dominant cerebellar ataxia (9 variants)
• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDYN-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	2	1	100	36	26	165
Total	2	1	100	36	26

Highest pathogenic variant AF is 0.0000263

Variants in PDYN-AS1

This is a list of pathogenic ClinVar variants found in the PDYN-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
20-1978791-G-A		Spinocerebellar ataxia type 23	Uncertain significance (Jan 12, 2018)
20-1978866-G-C		Spinocerebellar ataxia type 23	Benign (Jan 13, 2018)
20-1978880-C-T		Spinocerebellar ataxia type 23	Benign (Jan 13, 2018)
20-1978927-G-A		Spinocerebellar ataxia type 23	Benign (Jan 13, 2018)
20-1978929-G-A		Spinocerebellar ataxia type 23	Uncertain significance (Jan 12, 2018)
20-1978929-G-T		Spinocerebellar ataxia type 23	Benign (Jan 12, 2018)
20-1978987-C-G		Spinocerebellar ataxia type 23	Uncertain significance (Jan 12, 2018)
20-1979049-A-C		Spinocerebellar ataxia type 23	Uncertain significance (Jan 13, 2018)
20-1979085-T-A		Autosomal dominant cerebellar ataxia	Likely benign (Jun 14, 2016)
20-1979166-A-C		Spinocerebellar ataxia type 23	Uncertain significance (Jan 12, 2018)
20-1979252-C-T		Spinocerebellar ataxia type 23	Conflicting classifications of pathogenicity (Apr 01, 2023)
20-1979258-G-A		Spinocerebellar ataxia type 23	Uncertain significance (Mar 02, 2018)
20-1979293-G-A		Spinocerebellar ataxia type 23	Benign (Jan 13, 2018)
20-1979294-T-C		Spinocerebellar ataxia type 23	Benign (Jan 12, 2018)
20-1979451-G-T		Spinocerebellar ataxia type 23	Uncertain significance (Jan 13, 2018)
20-1979476-A-G		Spinocerebellar ataxia type 23	Uncertain significance (Jan 12, 2018)
20-1979487-G-C		Spinocerebellar ataxia type 23	Benign (Jan 13, 2018)
20-1979496-T-C		Spinocerebellar ataxia type 23	Uncertain significance (Jan 13, 2018)
20-1979552-A-G		Spinocerebellar ataxia type 23	Benign (Jan 12, 2018)
20-1979563-C-G		Spinocerebellar ataxia type 23	Conflicting classifications of pathogenicity (Aug 01, 2022)
20-1979580-A-G		Spinocerebellar ataxia type 23	Benign (Jan 13, 2018)
20-1979619-AAGTC-A		Autosomal dominant cerebellar ataxia	Uncertain significance (Jun 14, 2016)
20-1979652-A-G		Spinocerebellar ataxia type 23	Uncertain significance (Jan 13, 2018)
20-1979653-T-A		Spinocerebellar ataxia type 23	Uncertain significance (Jan 12, 2018)
20-1979667-A-G		Spinocerebellar ataxia type 23	Benign (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP