PLCG1-AS1

PLCG1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:41098019-41138003

Links

ENSG00000226648 ∙ NCBI:101927117 ∙ ∙ HGNC:40450 ∙ ∙ ∙ 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 PLCG1-AS1 gene.

• not provided (3 variants)
• Inborn genetic diseases (2 variants)
• - (2 variants)
• DNA topoisomerase I, camptothecin-resistant (1 variants)
• Autism spectrum disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLCG1-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)	1					1
splice region						0
non coding			2	1	2	5
Total	1	0	2	1	2

Variants in PLCG1-AS1

This is a list of pathogenic ClinVar variants found in the PLCG1-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
20-41098228-A-T		not specified	Uncertain significance (Sep 11, 2024)
20-41098319-G-A		not specified	Uncertain significance (Mar 15, 2024)
20-41100127-G-A			Benign (Oct 17, 2018)
20-41100181-C-T			Likely benign (Dec 31, 2019)
20-41101226-C-T		not specified	Uncertain significance (Jun 11, 2024)
20-41101262-A-T		Autism spectrum disorder	association (-)
20-41101297-G-A		DNA topoisomerase I, camptothecin-resistant	Pathogenic (Jul 01, 2002)
20-41112919-C-T		TOP1-related disorder	Likely benign (Apr 09, 2019)
20-41114060-C-T		not specified	Uncertain significance (Dec 19, 2023)
20-41114067-A-G		not specified	Uncertain significance (Nov 07, 2024)
20-41114115-A-G		-	no classification for the single variant (-)
20-41116318-G-G		-	no classification for the single variant (-)
20-41118221-T-C		TOP1-related disorder	Likely benign (Oct 28, 2019)
20-41118228-A-G		not specified	Uncertain significance (Feb 26, 2024)
20-41121765-G-A		not specified	Uncertain significance (Oct 24, 2024)
20-41121785-G-A		TOP1-related disorder	Benign (Jun 08, 2018)
20-41122038-G-A		not specified	Uncertain significance (Mar 31, 2022)
20-41122043-G-C		not specified	Uncertain significance (Dec 03, 2021)
20-41137714-C-T		not specified	Uncertain significance (Feb 14, 2024)
20-41137796-A-G		not specified	Uncertain significance (Jun 03, 2024)
20-41137831-C-T		not specified	Uncertain significance (Dec 15, 2023)
20-41137855-G-A		not specified	Uncertain significance (Aug 19, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP