THBS2-AS1

THBS2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:169213118-169245773

Links

ENSG00000226445 ∙ NCBI:101929523 ∙ ∙ HGNC:56059 ∙ ∙ ∙ 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 THBS2-AS1 gene.

• Inborn genetic diseases (32 variants)
• not provided (15 variants)
• Lumbar disk herniation, susceptibility to (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the THBS2-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			29	7	11	47
Total	0	0	29	7	11

Variants in THBS2-AS1

This is a list of pathogenic ClinVar variants found in the THBS2-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
6-169217820-G-A		THBS2-related disorder	Likely benign (Jun 27, 2019)
6-169217827-T-C		not specified	Likely benign (Oct 12, 2021)
6-169220268-G-A		THBS2-related disorder	Benign (Dec 31, 2019)
6-169221441-A-G		THBS2-related disorder	Benign (Aug 02, 2024)
6-169221447-G-C			Benign (Dec 31, 2019)
6-169221505-G-A			Benign (Dec 31, 2019)
6-169221515-A-C		not specified	Uncertain significance (Sep 12, 2023)
6-169222204-G-A		THBS2-related disorder	Benign (Jan 21, 2020)
6-169222227-C-T			Likely benign (Dec 01, 2022)
6-169222230-G-A			Benign (Dec 31, 2019)
6-169222254-C-T			Benign (Dec 31, 2019)
6-169222283-C-T		not specified	Uncertain significance (Jun 07, 2024)
6-169222287-G-A		THBS2-related disorder	Likely benign (Apr 01, 2019)
6-169222304-G-A		not specified	Uncertain significance (Jul 06, 2021)
6-169222306-G-A		not specified	Uncertain significance (Dec 21, 2023)
6-169222388-C-T		not specified	Uncertain significance (Sep 22, 2022)
6-169222395-G-A		THBS2-related disorder	Benign (Aug 02, 2024)
6-169222396-G-A		THBS2-related disorder	Benign (May 24, 2019)
6-169222424-C-T		not specified	Uncertain significance (May 01, 2024)
6-169222460-C-T		not specified	Uncertain significance (Mar 24, 2023)
6-169223255-G-A			Benign (Dec 31, 2019)
6-169223271-T-C		not specified	Uncertain significance (Apr 12, 2023)
6-169225200-G-A		THBS2-related disorder	Benign (Apr 05, 2019)
6-169225205-C-T		not specified	Likely benign (Sep 26, 2023)
6-169225212-G-A			Benign (Oct 25, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP