PINK1-AS

PINK1 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 1:20642657-20652193

Previous symbols: [ "PINK1-AS1" ]

Links

ENSG00000117242 ∙ ∙ ∙ HGNC:38872 ∙ ∙ ∙ 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 PINK1-AS gene.

• Autosomal recessive early-onset Parkinson disease 6 (177 variants)
• not provided (75 variants)
• Congenital disorder of glycosylation (24 variants)
• Parkinson Disease, Recessive (20 variants)
• not specified (6 variants)
• Inborn genetic diseases (3 variants)
• PINK1-related condition (1 variants)
• Neuroblastoma (1 variants)
• Parkinson disease, late-onset (1 variants)
• See cases (1 variants)
• Leprosy, susceptibility to, 1 (1 variants)
• Parkinson disease 6 (1 variants)
• Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PINK1-AS 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)	1				1	2
splice region						0
non coding	12	5	115	73	25	230
Total	13	5	115	73	26

Highest pathogenic variant AF is 0.0000525

Variants in PINK1-AS

This is a list of pathogenic ClinVar variants found in the PINK1-AS region.

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

Position	Type	Phenotype	Significance	ClinVar
1-20644499-G-C		Inborn genetic diseases	Uncertain significance (Dec 05, 2022)
1-20644501-G-A		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Jan 26, 2024)
1-20644512-C-T		Autosomal recessive early-onset Parkinson disease 6	not provided (-)
1-20644515-C-G		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Apr 04, 2024)
1-20644517-A-G		Autosomal recessive early-onset Parkinson disease 6	Benign (Dec 01, 2023)
1-20644518-G-A		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Jul 07, 2023)
1-20644519-C-T		Inborn genetic diseases	Uncertain significance (Feb 05, 2024)
1-20644526-C-A		Autosomal recessive early-onset Parkinson disease 6	Pathogenic (Sep 01, 2004)
1-20644526-C-T		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Apr 27, 2017)
1-20644536-A-G			Uncertain significance (Nov 22, 2022)
1-20644539-C-T		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Jan 13, 2018)
1-20644540-G-A		Autosomal recessive early-onset Parkinson disease 6	Conflicting classifications of pathogenicity (Oct 24, 2022)
1-20644548-C-T		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Jul 12, 2022)
1-20644549-G-A		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Aug 13, 2022)
1-20644550-C-T		Autosomal recessive early-onset Parkinson disease 6	Likely benign (Oct 03, 2023)
1-20644551-G-A		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Apr 16, 2022)
1-20644564-C-A		not specified • Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Sep 27, 2022)
1-20644565-C-T		Autosomal recessive early-onset Parkinson disease 6	Likely benign (Oct 13, 2023)
1-20644566-G-A		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Feb 22, 2022)
1-20644570-C-T		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Sep 02, 2022)
1-20644571-G-A		Autosomal recessive early-onset Parkinson disease 6	Conflicting classifications of pathogenicity (Nov 19, 2023)
1-20644577-GC-AA		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Dec 03, 2021)
1-20644578-C-A		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Oct 07, 2021)
1-20644600-C-T		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Apr 27, 2017)
1-20644611-C-T		Autosomal recessive early-onset Parkinson disease 6	Uncertain significance (Feb 02, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.196