WARS2-AS1

WARS2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:119140391-119362600

Links

ENSG00000231365 ∙ NCBI:101929147 ∙ ∙ HGNC:40612 ∙ ∙ ∙ 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 WARS2-AS1 gene.

• not provided (14 variants)
• Inborn genetic diseases (5 variants)
• WARS2-related condition (1 variants)
• WARS2-Related Disorders (1 variants)
• Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures (1 variants)
• Parkinsonism-dystonia 3, childhood-onset (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WARS2-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			9	6	2	17
Total	0	0	9	6	2

Variants in WARS2-AS1

This is a list of pathogenic ClinVar variants found in the WARS2-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
1-119140440-G-A			Benign (May 17, 2021)
1-119140539-G-C			Likely benign (Aug 16, 2022)
1-119140545-C-T			Likely benign (Nov 02, 2023)
1-119140553-A-T		Inborn genetic diseases	Uncertain significance (Mar 25, 2021)
1-119140561-A-T			Likely benign (Dec 02, 2021)
1-119140594-C-T			Benign/Likely benign (Nov 19, 2023)
1-119140597-G-C		Inborn genetic diseases	Uncertain significance (Dec 15, 2023)
1-119140598-A-G			Uncertain significance (Dec 11, 2023)
1-119140599-T-A		Inborn genetic diseases	Uncertain significance (Dec 19, 2022)
1-119140608-A-C		Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures • Parkinsonism-dystonia 3, childhood-onset • Inborn genetic diseases • WARS2-related disorder • Neurodevelopmental disorder	Conflicting classifications of pathogenicity (Jan 09, 2025)
1-119140608-A-G		Inborn genetic diseases • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	Conflicting classifications of pathogenicity (May 03, 2024)
1-119140608-A-T		Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	Likely pathogenic (Apr 25, 2024)
1-119140611-G-A			Uncertain significance (Mar 18, 2022)
1-119140618-C-A			Likely benign (Mar 11, 2023)
1-119140621-T-A		Inborn genetic diseases	Uncertain significance (Apr 14, 2022)
1-119140625-C-T			Uncertain significance (Feb 21, 2022)
1-119140635-G-A			Uncertain significance (Dec 11, 2023)
1-119140636-C-T			Likely benign (Dec 02, 2021)
1-119140767-G-A			Benign (May 17, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP