TGFB2-OT1

TGFB2 overlapping transcript 1, the group of Overlapping transcripts

Basic information

Region (hg38): 1:218442626-218443996

Links

ENSG00000281453 ∙ NCBI:103611157 ∙ ∙ HGNC:50629 ∙ ∙ ∙ 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-OT1 gene.

• Loeys-Dietz syndrome 4 (29 variants)
• Loeys-Dietz syndrome (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TGFB2-OT1 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			16	4	12	32
Total	0	0	16	4	12

Variants in TGFB2-OT1

This is a list of pathogenic ClinVar variants found in the TGFB2-OT1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-218442633-A-G		Loeys-Dietz syndrome 4	Uncertain significance (Jan 13, 2018)
1-218442635-T-C		Loeys-Dietz syndrome 4	Likely benign (Apr 27, 2017)
1-218442672-C-T		Loeys-Dietz syndrome 4	Benign (Jan 13, 2018)
1-218442677-T-G		Loeys-Dietz syndrome 4	Benign (Jan 13, 2018)
1-218442700-T-A		Loeys-Dietz syndrome 4	Uncertain significance (Jan 13, 2018)
1-218442751-C-T		Loeys-Dietz syndrome 4	Benign (Jan 13, 2018)
1-218442790-T-C		Loeys-Dietz syndrome 4	Uncertain significance (Jan 13, 2018)
1-218442793-A-C		Loeys-Dietz syndrome 4	Uncertain significance (Jan 12, 2018)
1-218442805-T-A		Loeys-Dietz syndrome 4	Benign (Apr 27, 2017)
1-218442864-T-C		Loeys-Dietz syndrome 4	Likely benign (Apr 27, 2017)
1-218442947-C-G		Loeys-Dietz syndrome 4	Benign (Jan 13, 2018)
1-218442977-T-C		Loeys-Dietz syndrome 4	Uncertain significance (Jan 13, 2018)
1-218442986-T-A		Loeys-Dietz syndrome 4	Benign (Apr 27, 2017)
1-218443046-G-C		Loeys-Dietz syndrome 4	Benign (Jan 13, 2018)
1-218443233-C-T		Loeys-Dietz syndrome 4	Uncertain significance (Aug 17, 2021)
1-218443369-C-T		Loeys-Dietz syndrome 4	Uncertain significance (Jan 13, 2018)
1-218443370-G-A		Loeys-Dietz syndrome 4	Benign (Apr 27, 2017)
1-218443415-G-A		Loeys-Dietz syndrome 4	Uncertain significance (Jan 12, 2018)
1-218443451-A-C		Loeys-Dietz syndrome 4	Uncertain significance (Jan 13, 2018)
1-218443470-G-A		Loeys-Dietz syndrome 4	Benign (Jan 13, 2018)
1-218443550-T-C		Loeys-Dietz syndrome 4	Likely benign (Apr 27, 2017)
1-218443631-T-C		Loeys-Dietz syndrome 4	Benign (Jan 13, 2018)
1-218443709-GT-G		Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)
1-218443709-GTT-G		Loeys-Dietz syndrome	Benign (Jun 14, 2016)
1-218443709-GTTT-G		Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP