PITRM1-AS1

PITRM1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:3141632-3167972

Links

ENSG00000237399 ∙ NCBI:100507034 ∙ ∙ HGNC:44675 ∙ ∙ ∙ 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 PITRM1-AS1 gene.

• not provided (128 variants)
• Inborn genetic diseases (52 variants)
• Irido-corneo-trabecular dysgenesis (2 variants)
• not specified (1 variants)
• Infantile onset spinocerebellar ataxia (1 variants)
• PITRM1-related condition (1 variants)
• Spinocerebellar ataxia, autosomal recessive 30 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PITRM1-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		78	56	40	176
Total	2	0	78	56	40

Highest pathogenic variant AF is 0.0000132

Variants in PITRM1-AS1

This is a list of pathogenic ClinVar variants found in the PITRM1-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
10-3143372-G-A			Likely benign (Sep 13, 2023)
10-3143380-C-T			Likely benign (Jul 17, 2022)
10-3143407-G-A		PITRM1-related disorder	Benign (Jan 04, 2024)
10-3143412-G-A			Likely benign (May 23, 2023)
10-3143417-C-T		not specified	Uncertain significance (Jul 09, 2024)
10-3143422-C-T			Uncertain significance (Oct 05, 2023)
10-3143430-T-G		not specified	Conflicting classifications of pathogenicity (Jan 01, 2024)
10-3143435-C-T			Uncertain significance (Apr 30, 2022)
10-3143438-C-T		not specified	Uncertain significance (Aug 01, 2024)
10-3143439-G-A			Likely benign (Jul 27, 2023)
10-3143444-T-G		not specified	Uncertain significance (Oct 28, 2023)
10-3143449-G-A			Uncertain significance (Aug 31, 2022)
10-3143468-G-T		not specified	Uncertain significance (Apr 08, 2022)
10-3143510-C-T			Likely benign (Jan 24, 2024)
10-3143515-T-C			Benign (Dec 15, 2023)
10-3144334-G-C		PITRM1-related disorder	Benign (Oct 01, 2024)
10-3144357-G-A		not specified	Uncertain significance (Nov 19, 2024)
10-3144385-A-T			Likely benign (Jul 06, 2022)
10-3145611-G-A			Likely benign (Mar 01, 2023)
10-3145612-C-T		PITRM1-related disorder	Uncertain significance (May 29, 2024)
10-3145613-G-A			Uncertain significance (May 27, 2022)
10-3145615-A-G		not specified	Uncertain significance (Jul 21, 2021)
10-3145625-G-A		not specified	Uncertain significance (Dec 14, 2021)
10-3145629-CT-C			Likely pathogenic (Jan 05, 2024)
10-3145630-T-C			Likely benign (Aug 02, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP