SLC26A4-AS1

SLC26A4 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:107650260-107662204

Links

ENSG00000233705 ∙ NCBI:286002 ∙ ∙ HGNC:22385 ∙ ∙ ∙ 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 SLC26A4-AS1 gene.

• not provided (65 variants)
• Pendred syndrome (31 variants)
• Autosomal recessive nonsyndromic hearing loss 4 (28 variants)
• not specified (18 variants)
• Rare genetic deafness (7 variants)
• Hearing loss, autosomal recessive (3 variants)
• SLC26A4-related condition (3 variants)
• SLC26A4-Related Disorders (2 variants)
• Deafness (2 variants)
• Inborn genetic diseases (2 variants)
• Autosomal recessive nonsyndromic hearing loss 4;Pendred syndrome (2 variants)
• Pendred syndrome;Autosomal recessive nonsyndromic hearing loss 4 (2 variants)
• SLC26A4-related disorder (1 variants)
• Hearing impairment (1 variants)
• Wolff-Parkinson-White pattern (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC26A4-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	12	20	21	34	4	91
Total	12	20	21	35	4

Highest pathogenic variant AF is 0.0000788

Variants in SLC26A4-AS1

This is a list of pathogenic ClinVar variants found in the SLC26A4-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
7-107660670-A-T		not specified • Autosomal recessive nonsyndromic hearing loss 4 • Pendred syndrome	Uncertain significance (Sep 05, 2021)
7-107660673-A-G		Autosomal recessive nonsyndromic hearing loss 4 • Pendred syndrome	Uncertain significance (Jan 13, 2018)
7-107660702-G-A		not specified	Uncertain significance (Jun 22, 2017)
7-107660715-C-T		not specified	Uncertain significance (Mar 31, 2021)
7-107660720-C-T		Pendred syndrome • Autosomal recessive nonsyndromic hearing loss 4 • not specified	Uncertain significance (Sep 05, 2021)
7-107660756-T-C		Pendred syndrome • Autosomal recessive nonsyndromic hearing loss 4 • not specified • Hearing impairment • SLC26A4-related disorder	Uncertain significance (Jan 17, 2024)
7-107660793-C-G		not specified • Pendred syndrome • Autosomal recessive nonsyndromic hearing loss 4	Benign/Likely benign (Apr 27, 2017)
7-107660793-C-T		not specified	Conflicting classifications of pathogenicity (Oct 26, 2023)
7-107660799-A-G		not specified • SLC26A4-related disorder	Conflicting classifications of pathogenicity (Sep 15, 2023)
7-107660808-G-A			Uncertain significance (Jun 07, 2022)
7-107660819-C-T		Autosomal recessive nonsyndromic hearing loss 4 • Pendred syndrome	Uncertain significance (Jan 13, 2018)
7-107660851-G-A		Pendred syndrome • Autosomal recessive nonsyndromic hearing loss 4	Uncertain significance (Sep 05, 2021)
7-107660860-G-A		Rare genetic deafness • not specified • Autosomal recessive nonsyndromic hearing loss 4 • SLC26A4-related disorder	Conflicting classifications of pathogenicity (Mar 24, 2023)
7-107660945-T-G			Benign (Dec 10, 2018)
7-107661378-C-T			Likely benign (Dec 24, 2018)
7-107661444-C-T			Likely benign (Dec 22, 2018)
7-107661524-A-AG			Likely benign (Jul 22, 2020)
7-107661637-A-G		Autosomal recessive nonsyndromic hearing loss 4;Pendred syndrome • Rare genetic deafness • Pendred syndrome • Autosomal recessive nonsyndromic hearing loss 4 • SLC26A4-related disorder	Pathogenic/Likely pathogenic (Mar 21, 2024)
7-107661643-T-C		Rare genetic deafness • Pendred syndrome • Autosomal recessive nonsyndromic hearing loss 4 • SLC26A4-related disorder	Pathogenic (Mar 05, 2024)
7-107661643-T-G			Pathogenic/Likely pathogenic (Mar 22, 2023)
7-107661644-G-A		Autosomal recessive nonsyndromic hearing loss 4	Pathogenic (-)
7-107661644-G-C		Pendred syndrome	Pathogenic/Likely pathogenic (Aug 01, 2023)
7-107661650-G-A			Likely benign (Jun 09, 2023)
7-107661650-G-T			Likely benign (Sep 23, 2023)
7-107661656-C-A		not specified • Pendred syndrome • Autosomal recessive nonsyndromic hearing loss 4	Conflicting classifications of pathogenicity (Aug 01, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP