TSPEAR-AS1

TSPEAR antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 21:44506807-44525952

Links

ENSG00000235890 ∙ NCBI:54082 ∙ ∙ HGNC:1271 ∙ ∙ ∙ 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 TSPEAR-AS1 gene.

• not provided (39 variants)
• not specified (6 variants)
• Inborn genetic diseases (5 variants)
• Tooth agenesis, selective, 10 (2 variants)
• Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis (2 variants)
• Autosomal recessive nonsyndromic hearing loss 98 (2 variants)
• Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis;Autosomal recessive nonsyndromic hearing loss 98 (1 variants)
• Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis (1 variants)
• TSPEAR-related disorder of tooth and hair follicle morphogenesis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSPEAR-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	2	2	17	18	2	41
Total	2	2	18	18	2

Highest pathogenic variant AF is 0.0000263

Variants in TSPEAR-AS1

This is a list of pathogenic ClinVar variants found in the TSPEAR-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
21-44508907-C-T			Likely benign (Dec 31, 2018)
21-44509010-TTCCCCAGGCCAGGAAAGTCCCCAGGCCATTCTTTCCACAGGAAGG-T			Likely benign (Oct 13, 2019)
21-44509026-AGTCCCCAGGCCATTCTTTCCACAGGAAG-A			Likely benign (Dec 31, 2018)
21-44509141-G-A			Likely benign (Sep 13, 2018)
21-44509162-A-C			Likely benign (Jun 21, 2018)
21-44509192-C-T		not specified	Likely benign (Nov 07, 2022)
21-44509196-T-C			Uncertain significance (Sep 27, 2022)
21-44509199-C-A		Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	Conflicting classifications of pathogenicity (Jan 20, 2024)
21-44509207-G-A		not specified	Benign (Jan 15, 2024)
21-44509222-C-G			Uncertain significance (Oct 24, 2023)
21-44509224-TG-T		Autosomal recessive nonsyndromic hearing loss 98 • Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis • Tooth agenesis, selective, 10	Pathogenic (Mar 29, 2024)
21-44509224-TGAC-T		Tooth agenesis, selective, 10	Uncertain significance (Mar 26, 2024)
21-44509225-GAC-AA		TSPEAR-related disorder of tooth and hair follicle morphogenesis • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	Pathogenic/Likely pathogenic (Jun 14, 2024)
21-44509237-C-T			Likely benign (Feb 24, 2021)
21-44509239-C-G			Uncertain significance (Dec 08, 2022)
21-44509239-C-T		Inborn genetic diseases	Uncertain significance (Dec 28, 2022)
21-44509240-G-A		TSPEAR-related disorder	Likely benign (Jul 06, 2021)
21-44509245-C-T			Uncertain significance (Apr 08, 2019)
21-44509246-G-A			Likely benign (Aug 08, 2023)
21-44509254-C-T			Uncertain significance (Jan 18, 2024)
21-44509255-G-A		not specified	Likely benign (Nov 13, 2023)
21-44509256-T-C		not specified • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis;Autosomal recessive nonsyndromic hearing loss 98 • Inborn genetic diseases	Conflicting classifications of pathogenicity (Dec 21, 2023)
21-44509263-C-T		not specified	Uncertain significance (Sep 26, 2022)
21-44509266-A-G			Uncertain significance (Aug 28, 2023)
21-44509275-CAT-C		Inborn genetic diseases • TSPEAR-related disorder	Pathogenic/Likely pathogenic (Sep 05, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP