TGFB3-AS1

TGFB3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 14:75970924-75971587

Links

ENSG00000258876 ∙ ∙ ∙ HGNC:53144 ∙ ∙ ∙ 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 TGFB3-AS1 gene.

• Rienhoff syndrome (51 variants)
• not provided (30 variants)
• Familial thoracic aortic aneurysm and aortic dissection (18 variants)
• not specified (3 variants)
• Arrhythmogenic right ventricular dysplasia 1 (2 variants)
• Arrhythmogenic right ventricular dysplasia 1;Rienhoff syndrome (2 variants)
• TGFB3-related condition (1 variants)
• Arrhythmogenic right ventricular cardiomyopathy (1 variants)
• Rienhoff syndrome;Arrhythmogenic right ventricular dysplasia 1 (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TGFB3-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	3	4	35	22	1	65
Total	3	4	35	22	1

Variants in TGFB3-AS1

This is a list of pathogenic ClinVar variants found in the TGFB3-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
14-75971108-T-G		Rienhoff syndrome	Likely benign (Mar 26, 2023)
14-75971109-C-A		Rienhoff syndrome	Likely benign (Jun 12, 2022)
14-75971110-T-A		Rienhoff syndrome	Likely benign (Dec 09, 2023)
14-75971113-A-G		not specified • Rienhoff syndrome	Conflicting classifications of pathogenicity (Jan 22, 2024)
14-75971117-T-C		Rienhoff syndrome	Likely benign (Jun 20, 2022)
14-75971125-C-A		Rienhoff syndrome	Likely pathogenic (Jul 17, 2022)
14-75971126-C-T		Rienhoff syndrome	Uncertain significance (Oct 03, 2021)
14-75971128-C-G		Rienhoff syndrome	Uncertain significance (Oct 02, 2022)
14-75971131-C-T		Rienhoff syndrome	Uncertain significance (Aug 28, 2023)
14-75971133-CA-C		Rienhoff syndrome	Pathogenic (Jan 16, 2023)
14-75971146-C-G		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (May 31, 2019)
14-75971146-C-T		Familial thoracic aortic aneurysm and aortic dissection • Rienhoff syndrome	Conflicting classifications of pathogenicity (Aug 29, 2024)
14-75971147-G-A		Rienhoff syndrome	Uncertain significance (Oct 26, 2020)
14-75971147-GCA-G			Pathogenic (Jun 01, 2022)
14-75971149-A-G		Rienhoff syndrome	Uncertain significance (Jun 20, 2023)
14-75971150-C-T		Rienhoff syndrome	Uncertain significance (Aug 23, 2022)
14-75971150-CA-C		Rienhoff syndrome	Pathogenic (Aug 07, 2021)
14-75971158-G-T			Uncertain significance (Oct 05, 2022)
14-75971160-G-A		Familial thoracic aortic aneurysm and aortic dissection • Rienhoff syndrome	Likely benign (Oct 29, 2023)
14-75971161-A-G		Rienhoff syndrome	Uncertain significance (Aug 30, 2023)
14-75971167-A-G		Rienhoff syndrome	Uncertain significance (Apr 26, 2020)
14-75971168-A-C		Rienhoff syndrome	Uncertain significance (Dec 11, 2023)
14-75971172-C-A			Likely benign (May 13, 2018)
14-75971180-C-T		Rienhoff syndrome	Uncertain significance (Oct 02, 2022)
14-75971181-G-A		Familial thoracic aortic aneurysm and aortic dissection • Rienhoff syndrome;Arrhythmogenic right ventricular dysplasia 1 • not specified • Rienhoff syndrome	Likely benign (Mar 11, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP