PRICKLE2-AS3

PRICKLE2 antisense RNA 3, the group of Antisense RNAs

Basic information

Region (hg38): 3:64187544-64200965

Links

ENSG00000226017 ∙ ∙ ∙ HGNC:40918 ∙ ∙ ∙ 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 PRICKLE2-AS3 gene.

• Progressive myoclonic epilepsy type 5 (18 variants)
• Progressive myoclonic epilepsy (2 variants)
• not specified (1 variants)
• not provided (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRICKLE2-AS3 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		1	10	7	2	20
Total	0	1	10	7	2

Variants in PRICKLE2-AS3

This is a list of pathogenic ClinVar variants found in the PRICKLE2-AS3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-64198765-C-T		Progressive myoclonic epilepsy type 5	Likely benign (Feb 03, 2022)
3-64198772-C-A		Progressive myoclonic epilepsy type 5	Likely benign (Jul 27, 2023)
3-64198774-A-G		not specified • Progressive myoclonic epilepsy type 5	Benign (Jan 24, 2024)
3-64198778-T-C		Progressive myoclonic epilepsy type 5	Uncertain significance (Mar 24, 2021)
3-64198781-T-C		Progressive myoclonic epilepsy type 5	Uncertain significance (Sep 01, 2022)
3-64198787-T-C		Progressive myoclonic epilepsy type 5	Likely benign (Jan 19, 2021)
3-64198802-C-T		Progressive myoclonic epilepsy type 5	Likely benign (Mar 03, 2023)
3-64198805-C-T		Progressive myoclonic epilepsy • Progressive myoclonic epilepsy type 5	Conflicting classifications of pathogenicity (Dec 04, 2023)
3-64198806-G-A		See cases	Likely pathogenic (Feb 01, 2021)
3-64198808-G-A		PRICKLE2-related disorder	Likely benign (Feb 19, 2019)
3-64198830-G-A		Progressive myoclonic epilepsy type 5	Uncertain significance (Jul 30, 2022)
3-64198830-G-C		Progressive myoclonic epilepsy type 5	Uncertain significance (Feb 13, 2020)
3-64198831-C-A		Progressive myoclonic epilepsy type 5 • not specified	Uncertain significance (Oct 01, 2024)
3-64198847-A-G		Progressive myoclonic epilepsy type 5	Likely benign (Dec 22, 2018)
3-64198856-C-T		Progressive myoclonic epilepsy type 5	Likely benign (Jun 21, 2019)
3-64198865-C-G		Progressive myoclonic epilepsy type 5	Uncertain significance (Jun 03, 2022)
3-64198878-A-C		Progressive myoclonic epilepsy type 5	Uncertain significance (Nov 06, 2023)
3-64198879-T-C		Progressive myoclonic epilepsy type 5	Uncertain significance (Sep 19, 2019)
3-64198889-G-C		Progressive myoclonic epilepsy type 5	Uncertain significance (Apr 23, 2022)
3-64198898-C-T		Progressive myoclonic epilepsy type 5	Likely benign (Jul 16, 2023)
3-64198910-C-T		Progressive myoclonic epilepsy type 5	Likely benign (Jul 12, 2022)
3-64198911-G-A		Progressive myoclonic epilepsy type 5	Uncertain significance (Jan 11, 2022)
3-64198922-C-T		Progressive myoclonic epilepsy type 5	Benign (Jan 24, 2024)
3-64198940-G-C		Progressive myoclonic epilepsy	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP