OPA1-AS1

OPA1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:193618609-193627337

Links

ENSG00000224855 ∙ NCBI:100873941 ∙ ∙ HGNC:40421 ∙ ∙ ∙ 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 OPA1-AS1 gene.

• not provided (79 variants)
• not specified (5 variants)
• Autosomal dominant optic atrophy classic form (5 variants)
• Osteoporosis;Mildly elevated creatine kinase;Limb pain;Myotonia (1 variants)
• Retinal dystrophy (1 variants)
• Abortive cerebellar ataxia;Glaucoma, normal tension, susceptibility to;Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy;Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type);Autosomal dominant optic atrophy classic form (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OPA1-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)				1		1
splice region						0
non coding	2		26	44	8	80
Total	2	0	26	45	8

Variants in OPA1-AS1

This is a list of pathogenic ClinVar variants found in the OPA1-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
3-193618636-T-C			Benign (Jun 14, 2018)
3-193618850-T-C		not specified	Benign (Feb 03, 2025)
3-193618850-T-G			Likely benign (Jul 09, 2022)
3-193618854-A-G			Likely benign (May 27, 2024)
3-193618854-A-T			Likely benign (Jul 11, 2022)
3-193618856-ATTTATC-A		Optic atrophy	Uncertain significance (Dec 01, 2021)
3-193618860-A-G		not specified • OPA1-related disorder	Likely benign (Dec 11, 2024)
3-193618869-G-C			Uncertain significance (Mar 13, 2022)
3-193618873-T-C			Likely benign (Dec 24, 2022)
3-193618874-C-G			Uncertain significance (Oct 30, 2024)
3-193618875-C-T		Autosomal dominant optic atrophy classic form • Inborn genetic diseases	Conflicting classifications of pathogenicity (Jul 19, 2024)
3-193618876-G-A			Benign (Jan 21, 2025)
3-193618877-G-A		OPA1-related disorder	Conflicting classifications of pathogenicity (Jan 06, 2025)
3-193618884-C-T			Conflicting classifications of pathogenicity (Jan 07, 2025)
3-193618885-G-A			Likely benign (Jan 02, 2025)
3-193618887-C-T		not specified • Autosomal dominant optic atrophy classic form	Benign (Feb 03, 2025)
3-193618887-CGT-GC			Pathogenic (Aug 01, 2019)
3-193618888-G-A			Likely benign (Oct 25, 2024)
3-193618890-T-C			Uncertain significance (Nov 22, 2022)
3-193618892-A-G		Retinal dystrophy	Uncertain significance (Jan 28, 2023)
3-193618894-A-C			Uncertain significance (Apr 14, 2022)
3-193618898-A-G			Uncertain significance (Nov 20, 2022)
3-193618899-C-G			Uncertain significance (Jun 27, 2022)
3-193618899-C-T			Uncertain significance (Oct 08, 2024)
3-193618904-C-T			Uncertain significance (Sep 23, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP