TGFB2-AS1

TGFB2 antisense RNA 1 (head to head), the group of Antisense RNAs

Basic information

Region (hg38): 1:218344145-218347866

Links

ENSG00000232480 ∙ NCBI:728463 ∙ ∙ HGNC:50628 ∙ ∙ ∙ 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 TGFB2-AS1 gene.

• Loeys-Dietz syndrome 4 (18 variants)
• not provided (6 variants)
• Loeys-Dietz syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TGFB2-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			11	3	5	19
Total	0	0	11	3	6

Variants in TGFB2-AS1

This is a list of pathogenic ClinVar variants found in the TGFB2-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
1-218345080-GTCCT-G			Benign (Jun 14, 2018)
1-218345173-A-C			Benign (Jun 19, 2018)
1-218345400-A-G		Loeys-Dietz syndrome 4	Benign/Likely benign (Jun 14, 2018)
1-218345420-T-TAGAAAG		Loeys-Dietz syndrome • Loeys-Dietz syndrome 4	Uncertain significance (Aug 27, 2021)
1-218345431-A-G		Loeys-Dietz syndrome 4	Uncertain significance (Jan 12, 2018)
1-218345453-G-A		Loeys-Dietz syndrome 4	Uncertain significance (Jan 12, 2018)
1-218345465-G-C		Loeys-Dietz syndrome 4	Uncertain significance (Jan 12, 2018)
1-218345472-G-A		Loeys-Dietz syndrome 4	Benign/Likely benign (Jun 14, 2018)
1-218345549-G-T		Loeys-Dietz syndrome 4	Uncertain significance (Jan 12, 2018)
1-218345686-C-T		Loeys-Dietz syndrome 4	Likely benign (Apr 27, 2017)
1-218345908-T-C		Loeys-Dietz syndrome 4	Uncertain significance (Jan 12, 2018)
1-218345918-A-C		Loeys-Dietz syndrome 4	Benign (Nov 26, 2019)
1-218345944-G-C		Loeys-Dietz syndrome 4	Uncertain significance (Jan 13, 2018)
1-218345956-G-T		Loeys-Dietz syndrome 4	Benign (Jan 13, 2018)
1-218345988-A-C		Loeys-Dietz syndrome 4	Benign (Apr 27, 2017)
1-218346003-A-C		Loeys-Dietz syndrome 4	Uncertain significance (Sep 15, 2021)
1-218346019-C-A		Loeys-Dietz syndrome 4	Uncertain significance (Jan 13, 2018)
1-218346020-C-G		Loeys-Dietz syndrome 4	Uncertain significance (Jan 13, 2018)
1-218346023-G-A		Loeys-Dietz syndrome 4	Uncertain significance (Sep 01, 2021)
1-218346025-T-C		Loeys-Dietz syndrome 4	Benign (Nov 26, 2019)
1-218346039-C-T		Loeys-Dietz syndrome 4	Uncertain significance (Jan 13, 2018)
1-218346048-G-GCGCACA		Loeys-Dietz syndrome • Loeys-Dietz syndrome 4	Uncertain significance (Feb 09, 2022)
1-218346052-A-ACACGCC		Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)
1-218346056-G-A		Loeys-Dietz syndrome 4	Uncertain significance (Jan 13, 2018)
1-218346056-GCA-G		Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP