TSPOAP1-AS1

TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 17:58324472-58415766

Previous symbols: [ "BZRAP1-AS1" ]

Links

ENSG00000265148 ∙ NCBI:100506779 ∙ ∙ HGNC:44148 ∙ ∙ ∙ 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 TSPOAP1-AS1 gene.

• not provided (454 variants)
• Sessile serrated polyposis cancer syndrome (110 variants)
• not specified (75 variants)
• Inborn genetic diseases (26 variants)
• Colon serrated polyposis (1 variants)
• Dystonia 22, juvenile-onset (1 variants)
• Bardet-Biedl syndrome (1 variants)
• RNF43-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSPOAP1-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	2	3	339	164	29	537
Total	2	3	339	164	29

Highest pathogenic variant AF is 0.00000664

Variants in TSPOAP1-AS1

This is a list of pathogenic ClinVar variants found in the TSPOAP1-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
17-58324995-G-A		not specified	Uncertain significance (Aug 17, 2021)
17-58325640-C-A			Benign (Aug 15, 2017)
17-58325709-C-T		not specified	Uncertain significance (Sep 27, 2021)
17-58326324-GC-G		Dystonia 22, juvenile-onset	Pathogenic (Jul 31, 2023)
17-58326776-C-T		not specified	Uncertain significance (Sep 30, 2021)
17-58327685-C-T		not specified	Benign (Mar 29, 2016)
17-58327896-G-A		Bardet-Biedl syndrome	Uncertain significance (-)
17-58346292-C-A		not specified	Uncertain significance (Mar 21, 2023)
17-58347217-G-A		not specified	Uncertain significance (Aug 26, 2022)
17-58347231-C-A		not specified	Uncertain significance (Apr 04, 2023)
17-58352110-T-C		not specified	Uncertain significance (Apr 25, 2023)
17-58354727-G-A			Likely benign (Jun 15, 2019)
17-58354935-T-C			Uncertain significance (Dec 22, 2023)
17-58354944-C-T			Likely benign (Jun 21, 2021)
17-58354949-A-G			Likely benign (Apr 29, 2020)
17-58354952-C-T			Likely benign (Aug 02, 2023)
17-58354957-C-G		Sessile serrated polyposis cancer syndrome	Uncertain significance (Oct 09, 2023)
17-58354961-C-G			Likely benign (Dec 30, 2022)
17-58354963-GCTC-G			Uncertain significance (Dec 06, 2023)
17-58354969-C-T		Sessile serrated polyposis cancer syndrome	Uncertain significance (Mar 12, 2024)
17-58354970-G-A			Likely benign (Dec 19, 2023)
17-58354973-TTCC-T			Uncertain significance (Mar 07, 2022)
17-58354976-C-G			Uncertain significance (Nov 20, 2020)
17-58354982-T-G			Likely benign (Sep 24, 2020)
17-58354990-T-A			Likely benign (Dec 03, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP