SYT2-AS1

SYT2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 1:202604268-202605293

Links

ENSG00000226862 ∙ ∙ ∙ HGNC:40572 ∙ ∙ ∙ 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 SYT2-AS1 gene.

• not provided (19 variants)
• SYT2-related condition (1 variants)
• Peripheral axonal neuropathy (1 variants)
• Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive (1 variants)
• Congenital myasthenic syndrome 7 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SYT2-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		2	11	8	1	22
Total	0	2	11	8	1

Variants in SYT2-AS1

This is a list of pathogenic ClinVar variants found in the SYT2-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
1-202604271-G-GC			Likely benign (Jul 04, 2020)
1-202604278-C-T			Benign (Jul 26, 2018)
1-202604444-A-G			Likely benign (Nov 05, 2024)
1-202604446-G-A			Likely benign (Sep 20, 2022)
1-202604457-G-C			Uncertain significance (Jul 29, 2023)
1-202604462-C-T		Inborn genetic diseases	Uncertain significance (Jan 19, 2025)
1-202604478-T-C		Peripheral axonal neuropathy	Uncertain significance (-)
1-202604492-T-C			Uncertain significance (Mar 15, 2022)
1-202604496-T-A		Inborn genetic diseases	Uncertain significance (Jan 29, 2024)
1-202604505-C-T			Uncertain significance (Nov 05, 2024)
1-202604506-C-T			Likely benign (Nov 22, 2022)
1-202604508-TCTC-T			Uncertain significance (Jun 24, 2022)
1-202604512-C-T			Likely benign (Nov 24, 2023)
1-202604518-G-C			Uncertain significance (Sep 19, 2023)
1-202604518-GTTC-G			Uncertain significance (Nov 14, 2024)
1-202604518-GTTCTTC-G			Uncertain significance (Jan 31, 2024)
1-202604524-C-G			Uncertain significance (Feb 22, 2024)
1-202604540-C-G			Uncertain significance (Jul 12, 2023)
1-202604542-T-C			Likely benign (May 22, 2024)
1-202604554-G-A			Likely benign (Sep 20, 2021)
1-202604575-C-T			Likely benign (Dec 24, 2023)
1-202604576-A-T			Uncertain significance (Apr 16, 2023)
1-202604585-G-C			Uncertain significance (May 23, 2022)
1-202604588-A-G			Uncertain significance (Jan 20, 2025)
1-202604592-C-T			Uncertain significance (Sep 07, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP