TBCEL-TECTA

TBCEL-TECTA readthrough

Basic information

Region (hg38): 11:121024124-121113108

Links

ENSG00000285509 ∙ NCBI:116804918 ∙ ∙ HGNC:54857 ∙ ∙ ∙ 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 TBCEL-TECTA gene.

• not provided (50 variants)
• Inborn genetic diseases (15 variants)
• not specified (13 variants)
• Autosomal dominant nonsyndromic hearing loss 12 (11 variants)
• Autosomal recessive nonsyndromic hearing loss 21 (10 variants)
• TECTA-related condition (2 variants)
• Nonsyndromic Hearing Loss, Dominant (1 variants)
• Nonsyndromic genetic hearing loss (1 variants)
• Autosomal dominant nonsyndromic hearing loss 12;Autosomal recessive nonsyndromic hearing loss 21 (1 variants)
• Nonsyndromic Hearing Loss, Recessive (1 variants)
• Hearing impairment (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TBCEL-TECTA 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			3	7		10
missense			34	2		36
nonsense						0
start loss						0
frameshift	1	2				3
inframe indel			1			1
splice donor/acceptor (+/-2bp)						0
splice region				2		2
non coding			2	9	7	18
Total	1	2	40	18	7

Variants in TBCEL-TECTA

This is a list of pathogenic ClinVar variants found in the TBCEL-TECTA region.

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

Position	Type	Phenotype	Significance	ClinVar
11-121045764-G-A			Uncertain significance (Aug 23, 2023)
11-121045800-C-A		not specified	Uncertain significance (Oct 02, 2023)
11-121045812-C-G		not specified	Uncertain significance (Jun 02, 2023)
11-121045812-C-T		not specified	Uncertain significance (Jul 25, 2023)
11-121047537-A-G		not specified	Uncertain significance (Jan 05, 2022)
11-121053551-G-A		not specified	Uncertain significance (Apr 05, 2023)
11-121053569-A-C		not specified	Uncertain significance (Aug 02, 2021)
11-121053659-G-A		not specified	Uncertain significance (Dec 28, 2023)
11-121053712-G-T		not specified	Uncertain significance (Jul 06, 2021)
11-121053713-A-T		TBCEL-related disorder	Likely benign (Nov 11, 2022)
11-121055099-G-C		not specified	Uncertain significance (Sep 22, 2022)
11-121055107-A-G		not specified	Uncertain significance (Jan 03, 2024)
11-121055174-G-A		not specified	Uncertain significance (Sep 21, 2023)
11-121055191-T-C		not specified	Uncertain significance (Feb 27, 2024)
11-121055204-A-T		not specified	Uncertain significance (Nov 07, 2022)
11-121055285-G-A		not specified	Uncertain significance (Nov 07, 2023)
11-121058365-A-G		not specified	Uncertain significance (Sep 17, 2021)
11-121058389-A-C		not specified	Uncertain significance (Feb 12, 2024)
11-121086951-A-G		not specified	Uncertain significance (Sep 27, 2021)
11-121086956-C-T		not specified	Uncertain significance (Feb 10, 2023)
11-121102355-A-C			Benign (Dec 23, 2018)
11-121102565-C-T			Likely benign (Jan 25, 2019)
11-121102587-A-C			Benign (Jul 05, 2018)
11-121102653-T-C		not specified • Nonsyndromic Hearing Loss, Dominant • Nonsyndromic Hearing Loss, Recessive	Benign/Likely benign (Jun 25, 2020)
11-121102676-C-CA		Nonsyndromic genetic hearing loss	Likely pathogenic (Feb 02, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP