TSPEAR-AS1
Basic information
Region (hg38): 21:44506807-44525952
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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 | |||||
splice region | 0 | |||||
non coding | 17 | 18 | 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 (Jun 03, 2024) | ||
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 (Apr 27, 2024) | ||
21-44509207-G-A | not specified | Benign (Jan 12, 2025) | ||
21-44509222-C-G | Uncertain significance (Oct 24, 2023) | |||
21-44509224-TG-T | Ectodermal dysplasia 14, hair/tooth type, with hypohidrosis • Tooth agenesis, selective, 10 • Autosomal recessive nonsyndromic hearing loss 98 | Pathogenic (Mar 29, 2024) | ||
21-44509224-TGAC-T | Tooth agenesis, selective, 10 | Uncertain significance (Mar 26, 2024) | ||
21-44509225-GAC-AA | Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis • TSPEAR-related disorder of tooth and hair follicle morphogenesis | Pathogenic/Likely pathogenic (Jun 14, 2024) | ||
21-44509237-C-T | Likely benign (Jul 20, 2024) | |||
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 | Inborn genetic diseases | Uncertain significance (Sep 07, 2024) | ||
21-44509246-G-A | Likely benign (Aug 08, 2023) | |||
21-44509250-A-G | Uncertain significance (Sep 10, 2024) | |||
21-44509254-C-T | Uncertain significance (Apr 02, 2024) | |||
21-44509255-G-A | not specified | Likely benign (Jan 18, 2025) | ||
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 (Jan 28, 2025) | ||
21-44509263-C-T | not specified | Uncertain significance (Sep 26, 2022) | ||
21-44509266-A-G | Uncertain significance (Aug 28, 2023) |
GnomAD
Source:
dbNSFP
Source: