TONSL-AS1

TONSL antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 8:144437675-144439971

Links

ENSG00000232600 ∙ NCBI:100287098 ∙ ∙ HGNC:51556 ∙ ∙ ∙ 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 TONSL-AS1 gene.

• not provided (45 variants)
• Inborn genetic diseases (5 variants)
• Sponastrime dysplasia (3 variants)
• Global developmental delay (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TONSL-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)			2	1		3
splice region						0
non coding		3	19	21	3	46
Total	0	3	21	22	3

Highest pathogenic variant AF is 0.00000659

Variants in TONSL-AS1

This is a list of pathogenic ClinVar variants found in the TONSL-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
8-144438431-A-G		Sponastrime dysplasia	Benign (Sep 10, 2021)
8-144438452-G-A			Likely benign (Dec 03, 2023)
8-144438453-T-A			Likely benign (Apr 17, 2023)
8-144438455-C-T			Likely benign (Nov 08, 2022)
8-144438458-G-C			Likely benign (Aug 04, 2023)
8-144438459-A-C			Likely benign (Sep 19, 2022)
8-144438461-C-T			Likely benign (Jan 31, 2023)
8-144438462-G-A		TONSL-related disorder	Likely benign (Nov 07, 2023)
8-144438465-G-A			Uncertain significance (May 09, 2022)
8-144438479-C-T			Uncertain significance (Jun 13, 2022)
8-144438487-T-C			Uncertain significance (Apr 05, 2021)
8-144438491-C-T			Likely benign (Jan 29, 2024)
8-144438493-C-T		Inborn genetic diseases	Conflicting classifications of pathogenicity (Jan 24, 2024)
8-144438494-G-A			Uncertain significance (Aug 16, 2022)
8-144438496-C-T			Uncertain significance (Aug 23, 2022)
8-144438497-G-A		Inborn genetic diseases	Uncertain significance (Dec 14, 2022)
8-144438509-C-T			Uncertain significance (May 25, 2022)
8-144438510-G-A			Likely benign (Oct 22, 2022)
8-144438511-ATGCAGGCTCGG-A		Sponastrime dysplasia	Pathogenic/Likely pathogenic (Jul 24, 2019)
8-144438520-C-T		Inborn genetic diseases	Uncertain significance (Jul 19, 2023)
8-144438530-G-A			Likely benign (Mar 08, 2023)
8-144438537-C-T			Likely benign (Oct 11, 2022)
8-144438543-G-A			Likely benign (Mar 21, 2023)
8-144438545-C-T			Uncertain significance (Mar 11, 2022)
8-144438546-G-A			Benign (Jan 25, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP