SYNE1-AS1

SYNE1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:152380489-152381777

Links

ENSG00000234577 ∙ NCBI:100505475 ∙ ∙ HGNC:40793 ∙ ∙ ∙ 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 SYNE1-AS1 gene.

• not provided (41 variants)
• Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant (33 variants)
• Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type (17 variants)
• Autosomal recessive ataxia, Beauce type (3 variants)
• Emery-Dreifuss muscular dystrophy 4, autosomal dominant (2 variants)
• not specified (2 variants)
• Arthrogryposis multiplex congenita 3, myogenic type (2 variants)
• SYNE1-related condition (1 variants)
• Inborn genetic diseases (1 variants)
• - (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SYNE1-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	5	1	45	24	1	76
Total	5	1	46	24	1

Highest pathogenic variant AF is 0.00000657

Variants in SYNE1-AS1

This is a list of pathogenic ClinVar variants found in the SYNE1-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
6-152380861-C-T			Benign (Jun 26, 2018)
6-152380992-G-A		Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Likely benign (Nov 15, 2022)
6-152381001-C-A		Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type	Uncertain significance (Jan 19, 2018)
6-152381009-T-C		Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Likely benign (Jul 29, 2022)
6-152381015-G-T			Uncertain significance (Jan 17, 2017)
6-152381021-G-A		Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type	Likely benign (Nov 01, 2022)
6-152381023-A-G			Uncertain significance (Oct 01, 2023)
6-152381031-A-G		Autosomal recessive ataxia, Beauce type	Uncertain significance (Feb 01, 2019)
6-152381032-T-A		Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type	Uncertain significance (Jul 30, 2022)
6-152381042-C-T		not specified • Autosomal recessive ataxia, Beauce type • Emery-Dreifuss muscular dystrophy 4, autosomal dominant • Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type • SYNE1-related disorder	Conflicting classifications of pathogenicity (Jul 01, 2024)
6-152381043-G-A		Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type	Uncertain significance (Jun 28, 2022)
6-152381058-A-G		Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Uncertain significance (Mar 08, 2023)
6-152381069-C-T		Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type	Likely benign (Mar 12, 2023)
6-152381078-C-G		Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type	Uncertain significance (Aug 04, 2023)
6-152381081-G-A			Uncertain significance (Aug 07, 2017)
6-152381097-C-T		Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type	Uncertain significance (Nov 20, 2023)
6-152381101-A-T		Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type	Uncertain significance (Jun 07, 2022)
6-152381110-G-C		Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type	Uncertain significance (Oct 10, 2023)
6-152381122-G-A		Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Likely benign (Mar 02, 2022)
6-152381125-G-A			Pathogenic (Apr 26, 2017)
6-152381125-GA-G		-	no classification for the single variant (-)
6-152381127-G-T		Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Uncertain significance (Sep 26, 2022)
6-152381129-CA-C		Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant • Autosomal recessive ataxia, Beauce type	Pathogenic (Feb 19, 2024)
6-152381131-C-G		Autosomal recessive ataxia, Beauce type;Emery-Dreifuss muscular dystrophy 4, autosomal dominant	Uncertain significance (Aug 09, 2022)
6-152381132-T-C		Emery-Dreifuss muscular dystrophy 4, autosomal dominant;Autosomal recessive ataxia, Beauce type	Likely benign (Oct 21, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP