ITPR2-AS1

ITPR2 and SSPN antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:26211164-26335856

Links

ENSG00000256234 ∙ ∙ ∙ HGNC:56072 ∙ ∙ ∙ 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 ITPR2-AS1 gene.

• Inborn genetic diseases (10 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ITPR2-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		3	13
Total	0	0	10	0	3

Variants in ITPR2-AS1

This is a list of pathogenic ClinVar variants found in the ITPR2-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
12-26224352-A-C		not specified	Uncertain significance (Aug 21, 2023)
12-26224354-G-A		not specified	Uncertain significance (Oct 06, 2022)
12-26230735-C-G		not specified	Uncertain significance (Oct 14, 2023)
12-26230745-C-T			Benign (Jan 12, 2018)
12-26230747-G-T		not specified	Uncertain significance (Mar 29, 2023)
12-26230787-C-T		not specified	Uncertain significance (May 18, 2022)
12-26230819-C-G		not specified	Uncertain significance (Jun 06, 2023)
12-26230822-G-A		not specified	Uncertain significance (Feb 05, 2024)
12-26230857-G-A			Benign (Dec 31, 2019)
12-26230878-C-T			Benign (Mar 29, 2018)
12-26230885-G-A		not specified	Uncertain significance (Aug 08, 2022)
12-26230889-C-T		not specified	Uncertain significance (Mar 12, 2024)
12-26230960-G-A		not specified	Uncertain significance (Jul 20, 2021)
12-26231030-G-A		not specified	Uncertain significance (Sep 22, 2022)
12-26231045-C-T		not specified	Uncertain significance (Jun 23, 2021)
12-26231053-G-A		not specified	Uncertain significance (Nov 29, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP