PLCE1-AS1

PLCE1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 10:94278280-94287478

Links

ENSG00000268894 ∙ NCBI:100128054 ∙ ∙ HGNC:45193 ∙ ∙ ∙ 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-AS1 gene.

• not provided (18 variants)
• Nephrotic syndrome, type 3 (11 variants)
• not specified (3 variants)
• Focal segmental glomerulosclerosis (2 variants)
• PLCE1-related condition (2 variants)
• Nephrotic syndrome (2 variants)
• Kidney disorder (1 variants)
• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLCE1-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	3	9	5	9	28
Total	2	3	9	5	9

Variants in PLCE1-AS1

This is a list of pathogenic ClinVar variants found in the PLCE1-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
10-94279820-T-C			Likely benign (Jun 21, 2023)
10-94279840-G-A		Nephrotic syndrome, type 3	Uncertain significance (Dec 28, 2023)
10-94279840-G-C		not specified • Nephrotic syndrome, type 3 • Focal segmental glomerulosclerosis	Benign (Jul 15, 2024)
10-94279849-A-G		Nephrotic syndrome, type 3 • Kidney disorder	Benign/Likely benign (Jan 07, 2024)
10-94279849-A-T		Nephrotic syndrome, type 3	Uncertain significance (Mar 04, 2022)
10-94279892-C-T			Likely benign (Aug 04, 2023)
10-94279919-A-G		PLCE1-related disorder	Likely benign (Sep 21, 2020)
10-94279951-C-T		not specified	Benign (Jul 15, 2024)
10-94283801-GA-G			Pathogenic (Apr 07, 2022)
10-94283804-G-T		Nephrotic syndrome, type 3	Uncertain significance (Jan 13, 2018)
10-94283840-C-T		Nephrotic syndrome, type 3	Pathogenic (Dec 01, 2006)
10-94283873-A-T		Inborn genetic diseases	Likely benign (Jan 09, 2024)
10-94283878-GA-G		Nephrotic syndrome	Likely pathogenic (Nov 10, 2017)
10-94283878-G-GA		PLCE1-related disorder	Likely pathogenic (Oct 12, 2022)
10-94283882-G-A			Benign (Dec 14, 2018)
10-94283896-T-C		not specified	Likely benign (-)
10-94283914-G-A			Uncertain significance (Jul 06, 2022)
10-94283975-A-G		not specified	Benign (Jul 15, 2024)
10-94284739-G-A			Likely benign (Mar 06, 2020)
10-94284829-A-G			Likely benign (Jul 30, 2023)
10-94284845-C-T			Uncertain significance (Jul 06, 2022)
10-94284852-A-G		Inborn genetic diseases	Uncertain significance (Oct 02, 2023)
10-94284854-G-A		Nephrotic syndrome, type 3	Uncertain significance (Jan 13, 2018)
10-94284865-G-A		Nephrotic syndrome, type 3	Conflicting classifications of pathogenicity (Jul 29, 2023)
10-94284903-GCAGA-G		Nephrotic syndrome, type 3 • Nephrotic syndrome • Focal segmental glomerulosclerosis	Pathogenic/Likely pathogenic (Jan 25, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP