COL4A2-AS2

COL4A2 antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 13:110456396-110463287

Links

ENSG00000224821 ∙ NCBI:100129836 ∙ ∙ HGNC:39849 ∙ ∙ ∙ 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 COL4A2-AS2 gene.

• not provided (103 variants)
• Porencephaly 2 (20 variants)
• Inborn genetic diseases (10 variants)
• COL4A2-related condition (7 variants)
• not specified (5 variants)
• Vasculitis (1 variants)
• Intracerebral hemorrhage (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COL4A2-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)			1			1
splice region						0
non coding	4	2	44	43	31	124
Total	4	2	45	43	31

Highest pathogenic variant AF is 0.0000197

Variants in COL4A2-AS2

This is a list of pathogenic ClinVar variants found in the COL4A2-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
13-110456904-G-A			Likely benign (Apr 01, 2023)
13-110457062-G-C			Benign (Jul 09, 2018)
13-110457114-A-G			Benign (Jun 29, 2018)
13-110457114-A-ACCCCAGGCGTCCGTGGGGCTGATGCCGTGCG			Benign (Feb 04, 2019)
13-110457151-G-C			Likely benign (Nov 01, 2022)
13-110457229-G-C			Benign (Jun 29, 2018)
13-110457242-T-G			Likely benign (Jun 01, 2022)
13-110457271-G-C			Benign (Jun 29, 2018)
13-110457271-G-GATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTC			Likely benign (Mar 10, 2019)
13-110457271-G-GATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTC			Likely benign (Oct 27, 2018)
13-110457296-C-T			Likely benign (Jun 01, 2022)
13-110457323-A-C		not specified	Likely benign (Jul 09, 2018)
13-110457333-G-C		not specified	Likely benign (Dec 08, 2023)
13-110457339-C-G			Uncertain significance (Aug 01, 2023)
13-110457342-G-C		Porencephaly 2	Uncertain significance (Apr 28, 2017)
13-110457346-T-G		Inborn genetic diseases	Uncertain significance (Sep 26, 2023)
13-110457355-G-A		COL4A2-related disorder	Uncertain significance (Jan 27, 2023)
13-110457359-GA-G			Pathogenic (Oct 21, 2022)
13-110457367-C-T			Uncertain significance (Sep 06, 2017)
13-110457368-A-G			Likely benign (Dec 26, 2018)
13-110457373-G-A		Inborn genetic diseases	Uncertain significance (Dec 01, 2022)
13-110457378-G-A		Porencephaly 2 • COL4A2-related disorder • Inborn genetic diseases	Benign/Likely benign (Jul 01, 2024)
13-110457395-TC-T			Uncertain significance (Jul 31, 2022)
13-110457398-C-T			Likely benign (Jul 31, 2018)
13-110457399-G-A			Uncertain significance (Sep 01, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.405

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114