ATXN2-AS

ATXN2 antisense RNA, the group of Antisense RNAs

Basic information

Region (hg38): 12:111598856-111650079

Links

ENSG00000258099 ∙ NCBI:102723619 ∙ ∙ HGNC:51838 ∙ ∙ ∙ 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 ATXN2-AS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATXN2-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)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in ATXN2-AS

This is a list of pathogenic ClinVar variants found in the ATXN2-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
12-111598868-G-C		Inborn genetic diseases	Uncertain significance (Jan 03, 2024)
12-111598871-G-A		Inborn genetic diseases	Uncertain significance (Apr 22, 2024)
12-111598919-G-C		Inborn genetic diseases	Uncertain significance (Mar 31, 2024)
12-111598943-G-C		Inborn genetic diseases	Uncertain significance (Sep 29, 2023)
12-111598942-G-GGGC			Benign (May 01, 2022)
12-111598949-GGCT-G		Spinocerebellar ataxia type 2 • not specified	Benign (Mar 23, 2020)
12-111598949-GGCTGCTGCTGCTGCTGCTGCTGCTGCTGTT-G			Likely benign (Apr 01, 2023)
12-111598958-T-G		Inborn genetic diseases	Uncertain significance (Jul 27, 2022)
12-111598963-C-CTGCTGCTGCTGT			Benign (Sep 01, 2022)
12-111598966-CTGCTGCTGCTGT-C			Likely benign (Jan 01, 2025)
12-111598969-C-T			Likely benign (Jul 01, 2023)
12-111598972-CTGCTGT-C			Likely benign (Oct 01, 2023)
12-111598974-GC-G		ATXN2-related disorder	Likely benign (May 09, 2022)
12-111598976-TGTTGCTGCTGCTGCTGC-T		ATXN2-related disorder	Likely benign (May 09, 2022)
12-111598976-TGTTGCTGCTGCTGCTGCTGCTGCTGCTGC-T		Spinocerebellar ataxia type 2	Likely pathogenic (Jul 21, 2022)
12-111598978-T-C		Spinocerebellar ataxia type 2 • not specified	Benign (-)
12-111598978-T-TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC		Spinocerebellar ataxia type 2	Pathogenic (Dec 14, 2023)
12-111598978-T-TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC		Spinocerebellar ataxia type 2	Likely pathogenic (Aug 16, 2023)
12-111598978-T-TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC		Amyotrophic lateral sclerosis • Spinocerebellar ataxia type 2	Likely pathogenic; risk factor (Dec 02, 2023)
12-111598978-T-TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC		Spinocerebellar ataxia type 2	Uncertain significance (Aug 11, 2023)
12-111598981-C-G		Inborn genetic diseases	Uncertain significance (Jul 21, 2021)
12-111598981-C-T			Likely benign (Aug 01, 2023)
12-111598987-C-T			Likely benign (May 01, 2024)
12-111598992-GC-G		Parkinson disease, late-onset • ATXN2-related disorder	Likely benign (Jun 05, 2020)
12-111598993-C-T		not specified • Spinocerebellar ataxia type 2	Benign (-)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP