PLCE1-AS2

PLCE1 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 10:94081950-94108814

Links

ENSG00000232913 ∙ NCBI:101927049 ∙ ∙ HGNC:51206 ∙ ∙ ∙ 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 PLCE1-AS2 gene.

• not provided (2 variants)
• Nephrotic syndrome, type 3 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLCE1-AS2 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	2		3
Total	0	0	1	2	0

Variants in PLCE1-AS2

This is a list of pathogenic ClinVar variants found in the PLCE1-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-94088990-T-G			Likely benign (Nov 29, 2019)
10-94089085-G-A		PLCE1-related disorder	Benign (Dec 06, 2019)
10-94089143-G-A		Nephrotic syndrome, type 3	Uncertain significance (Jun 11, 2020)
10-94089161-G-A		PLCE1-related disorder	Likely benign (Jun 14, 2022)
10-94089161-G-T		PLCE1-related disorder	Uncertain significance (Dec 05, 2023)
10-94089270-C-T		PLCE1-related disorder	Likely benign (Aug 30, 2023)
10-94089340-G-A			Likely benign (Feb 20, 2020)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP