TTC21B-AS1

TTC21B antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 2:165933749-165949891

Links

ENSG00000224490 ∙ NCBI:100506134 ∙ ∙ HGNC:41115 ∙ ∙ ∙ 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 TTC21B-AS1 gene.

• Jeune thoracic dystrophy;Nephronophthisis (92 variants)
• Nephronophthisis;Jeune thoracic dystrophy (45 variants)
• not provided (40 variants)
• Asphyxiating thoracic dystrophy 4;Nephronophthisis 12 (18 variants)
• not specified (13 variants)
• Nephronophthisis 12 (13 variants)
• Asphyxiating thoracic dystrophy 4 (13 variants)
• Inborn genetic diseases (10 variants)
• TTC21B-related condition (6 variants)
• Nephronophthisis 12;Asphyxiating thoracic dystrophy 4 (5 variants)
• Connective tissue disorder (3 variants)
• Jeune thoracic dystrophy (3 variants)
• Nephrotic syndrome (2 variants)
• Bardet-Biedl syndrome 2 (1 variants)
• Joubert syndrome 1 (1 variants)
• SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY (1 variants)
• Finnish congenital nephrotic syndrome (1 variants)
• See cases (1 variants)
• Infantile nephronophthisis (1 variants)
• Familial aplasia of the vermis (1 variants)
• Short-rib thoracic dysplasia 6 with or without polydactyly (1 variants)
• Renal dysplasia and retinal aplasia (1 variants)
• Retinal dystrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTC21B-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)						0
splice region						0
non coding	10	6	85	63	11	175
Total	10	6	85	63	11

Highest pathogenic variant AF is 0.0000131

Variants in TTC21B-AS1

This is a list of pathogenic ClinVar variants found in the TTC21B-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
2-165940934-T-A			Benign (Jun 23, 2018)
2-165940940-C-A			Benign (Jun 26, 2018)
2-165941008-T-C		Nephronophthisis;Jeune thoracic dystrophy	Likely benign (Nov 04, 2023)
2-165941010-A-G		Jeune thoracic dystrophy;Nephronophthisis	Likely benign (May 27, 2022)
2-165941018-T-C		Jeune thoracic dystrophy;Nephronophthisis	Likely benign (Oct 13, 2022)
2-165941032-T-C		Jeune thoracic dystrophy;Nephronophthisis	Likely benign (Mar 10, 2021)
2-165941034-C-G		Jeune thoracic dystrophy • Jeune thoracic dystrophy;Nephronophthisis • TTC21B-related disorder	Uncertain significance (Nov 13, 2023)
2-165941046-T-A		not specified • Joubert syndrome 1 • Nephronophthisis 12 • Asphyxiating thoracic dystrophy 4 • Jeune thoracic dystrophy;Nephronophthisis • TTC21B-related disorder	Conflicting classifications of pathogenicity (Jan 29, 2024)
2-165941052-C-T		Asphyxiating thoracic dystrophy 4 • Nephronophthisis 12	Uncertain significance (Apr 27, 2017)
2-165941053-C-T		Nephronophthisis;Jeune thoracic dystrophy	Pathogenic (Aug 10, 2023)
2-165941056-A-G		Jeune thoracic dystrophy;Nephronophthisis	Likely benign (Jan 22, 2024)
2-165941061-G-T		Inborn genetic diseases	Uncertain significance (Jul 09, 2021)
2-165941066-G-A		Jeune thoracic dystrophy;Nephronophthisis	Uncertain significance (Nov 16, 2023)
2-165941067-C-T		Jeune thoracic dystrophy;Nephronophthisis	Uncertain significance (Aug 15, 2022)
2-165941070-G-A		Jeune thoracic dystrophy;Nephronophthisis	Likely benign (Dec 12, 2023)
2-165941070-G-C		Nephrotic syndrome • Jeune thoracic dystrophy;Nephronophthisis	Uncertain significance (Nov 27, 2023)
2-165941072-T-A		not specified • Nephronophthisis 12 • Asphyxiating thoracic dystrophy 4 • Jeune thoracic dystrophy;Nephronophthisis • Connective tissue disorder • Asphyxiating thoracic dystrophy 4;Nephronophthisis 12	Benign/Likely benign (Jan 25, 2024)
2-165941092-A-G		Jeune thoracic dystrophy;Nephronophthisis	Likely benign (Jan 04, 2024)
2-165941108-C-T		Nephronophthisis 12	Uncertain significance (May 01, 2019)
2-165941111-G-A		Nephronophthisis 12 • Jeune thoracic dystrophy;Nephronophthisis • Nephronophthisis 12;Asphyxiating thoracic dystrophy 4 • Finnish congenital nephrotic syndrome • Infantile nephronophthisis • Renal dysplasia and retinal aplasia • Retinal dystrophy • Nephrotic syndrome • See cases • TTC21B-related disorder	Pathogenic/Likely pathogenic (Jan 14, 2024)
2-165941121-C-T		Jeune thoracic dystrophy;Nephronophthisis • Inborn genetic diseases	Uncertain significance (Jun 20, 2022)
2-165941122-G-A		Jeune thoracic dystrophy;Nephronophthisis	Likely benign (Jun 23, 2023)
2-165941136-C-T		not specified • Asphyxiating thoracic dystrophy 4 • Nephronophthisis 12 • Jeune thoracic dystrophy;Nephronophthisis	Benign (Jan 31, 2024)
2-165941137-A-G		Jeune thoracic dystrophy;Nephronophthisis • TTC21B-related disorder	Likely benign (Jun 04, 2023)
2-165941139-T-C		Jeune thoracic dystrophy;Nephronophthisis • Inborn genetic diseases	Uncertain significance (Jan 30, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP