LARS2-AS1

LARS2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:45483974-45509545

Links

ENSG00000232455 ∙ ∙ ∙ HGNC:40796 ∙ ∙ ∙ 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 LARS2-AS1 gene.

• not provided (101 variants)
• not specified (18 variants)
• Perrault syndrome 4 (13 variants)
• Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome (8 variants)
• Perrault syndrome (4 variants)
• Inborn genetic diseases (2 variants)
• Rare genetic deafness (2 variants)
• Nonsyndromic genetic hearing loss (1 variants)
• Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome;Perrault syndrome 4 (1 variants)
• Inborn mitochondrial myopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LARS2-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	6	8	37	47	19	117
Total	6	8	37	47	19

Highest pathogenic variant AF is 0.0000131

Variants in LARS2-AS1

This is a list of pathogenic ClinVar variants found in the LARS2-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
3-45485474-T-A			Likely benign (Jan 06, 2019)
3-45485503-G-A			Benign (Jul 15, 2018)
3-45485607-C-G			Benign (Jun 14, 2018)
3-45485675-T-C			Likely benign (Sep 20, 2023)
3-45485680-T-C			Likely benign (Jun 24, 2022)
3-45485700-A-G			Uncertain significance (Aug 22, 2022)
3-45485701-C-T			Uncertain significance (Jan 28, 2022)
3-45485702-G-A			Likely benign (Jun 01, 2023)
3-45485702-G-T			Likely benign (Jul 26, 2022)
3-45485723-G-T		Inborn genetic diseases	Uncertain significance (Nov 09, 2021)
3-45485724-C-T			Uncertain significance (Nov 11, 2021)
3-45485726-T-A		not specified	Likely benign (May 11, 2017)
3-45485726-T-C		not specified • Perrault syndrome 4 • Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	Benign (Feb 01, 2024)
3-45485731-A-C			Uncertain significance (Jun 24, 2021)
3-45485748-G-A			Uncertain significance (Sep 14, 2023)
3-45485748-GT-G		Perrault syndrome 4 • Perrault syndrome	Pathogenic (May 06, 2019)
3-45485752-T-C		LARS2-related disorder • Perrault syndrome 4	Likely pathogenic (-)
3-45485756-G-A			Likely benign (Jan 31, 2024)
3-45485777-C-G		not specified	Likely benign (Sep 05, 2023)
3-45485782-TG-T			Pathogenic (Nov 28, 2022)
3-45485784-G-A			Uncertain significance (Oct 03, 2023)
3-45485788-C-G		Perrault syndrome 4	Likely pathogenic (Aug 14, 2018)
3-45485803-A-T		LARS2-related disorder	Likely benign (Aug 17, 2023)
3-45485804-G-C		not specified	Likely benign (May 21, 2022)
3-45485807-A-G			Likely benign (Apr 16, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP