PLA2G4E-AS1

PLA2G4E antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 15:41972763-41999094

Links

ENSG00000246740 ∙ NCBI:101928388 ∙ ∙ HGNC:51419 ∙ ∙ ∙ 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 PLA2G4E-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLA2G4E-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			1			1
non coding			43	1	2	46
Total	0	0	43	1	2

Variants in PLA2G4E-AS1

This is a list of pathogenic ClinVar variants found in the PLA2G4E-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
15-41983776-A-G		not specified	Uncertain significance (May 15, 2024)
15-41983787-C-G		not specified	Uncertain significance (Oct 29, 2024)
15-41983798-C-T		not specified	Uncertain significance (Dec 13, 2021)
15-41983804-G-A		not specified	Uncertain significance (Jan 09, 2024)
15-41983937-C-G		not specified	Uncertain significance (Nov 24, 2024)
15-41983944-T-G		not specified	Uncertain significance (Sep 20, 2024)
15-41983957-C-T		not specified	Uncertain significance (May 01, 2022)
15-41984453-C-T		not specified	Likely benign (Jan 10, 2022)
15-41984465-T-C		not specified	Uncertain significance (Nov 26, 2024)
15-41984511-G-C		not specified	Uncertain significance (Oct 26, 2023)
15-41984518-C-T		not specified	Uncertain significance (Aug 01, 2024)
15-41984589-C-T		not specified	Uncertain significance (Oct 17, 2023)
15-41984604-A-T		not specified	Uncertain significance (Dec 06, 2024)
15-41984605-G-A			Benign (May 21, 2018)
15-41985859-A-T		not specified	Uncertain significance (Aug 12, 2024)
15-41985877-T-C		not specified	Uncertain significance (Aug 21, 2023)
15-41985883-C-T		not specified	Uncertain significance (Dec 21, 2023)
15-41985919-T-A		not specified	Uncertain significance (Dec 27, 2023)
15-41985924-T-C		not specified	Uncertain significance (May 23, 2023)
15-41987225-C-T		not specified	Uncertain significance (Nov 11, 2024)
15-41987262-G-A		not specified	Uncertain significance (Oct 30, 2024)
15-41987267-G-A		not specified	Uncertain significance (Feb 03, 2023)
15-41987366-G-A		not specified	Uncertain significance (Oct 03, 2023)
15-41989421-T-C		Abnormality of neuronal migration	Benign (Oct 31, 2014)
15-41989453-A-G		not specified	Uncertain significance (Jan 31, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP