COL4A2-AS1

COL4A2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 13:110502575-110508179

Links

ENSG00000232814 ∙ ∙ ∙ HGNC:40156 ∙ ∙ ∙ 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-AS1 gene.

• not provided (149 variants)
• Porencephaly 2 (42 variants)
• Inborn genetic diseases (19 variants)
• COL4A2-related condition (6 variants)
• not specified (5 variants)
• Cerebral palsy (1 variants)
• Vascular dementia (1 variants)
• COL4A1 or COL4A2-related cerebral small vessel disease (1 variants)
• Intraventricular hemorrhage (1 variants)
• See cases (1 variants)
• Cerebral hemorrhage;Seizure (1 variants)
• Porencephalic cyst (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the COL4A2-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	5	7	66	59	39	176
Total	5	7	67	59	39

Highest pathogenic variant AF is 0.0000263

Variants in COL4A2-AS1

This is a list of pathogenic ClinVar variants found in the COL4A2-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
13-110502812-G-A			Benign (Jul 15, 2018)
13-110502883-G-T			Benign (Jul 09, 2018)
13-110502924-T-C			Benign (Jun 29, 2018)
13-110503016-G-A			Benign (Jun 29, 2018)
13-110503081-C-T			Benign (Jun 29, 2018)
13-110503118-C-T			Uncertain significance (Jun 08, 2022)
13-110503123-T-TATCGGGGCCC			Pathogenic (Nov 22, 2022)
13-110503125-T-G			Uncertain significance (Jul 09, 2024)
13-110503126-C-T		COL4A2-related disorder	Likely benign (Jan 04, 2024)
13-110503127-G-A		Inborn genetic diseases • Porencephaly 2	Conflicting classifications of pathogenicity (May 09, 2023)
13-110503135-C-A		Inborn genetic diseases	Uncertain significance (Mar 06, 2023)
13-110503139-G-A		Porencephaly 2	Uncertain significance (Oct 29, 2021)
13-110503158-T-C		Porencephaly 2	Conflicting classifications of pathogenicity (Aug 16, 2022)
13-110503159-C-T		COL4A2-related disorder	Uncertain significance (Aug 31, 2024)
13-110503163-C-G		Porencephaly 2 • Inborn genetic diseases • COL4A2-related disorder	Benign/Likely benign (Oct 05, 2023)
13-110503193-G-T		Porencephaly 2	Likely pathogenic (Dec 11, 2024)
13-110503201-G-C			Uncertain significance (Aug 22, 2023)
13-110503219-G-A		Porencephaly 2 • COL4A2-related disorder	Uncertain significance (Aug 04, 2023)
13-110503220-G-A			Likely pathogenic (Mar 27, 2024)
13-110503225-G-T			Uncertain significance (Oct 25, 2022)
13-110503227-C-T		COL4A2-related disorder	Benign (Jul 28, 2023)
13-110503231-G-A		Inborn genetic diseases	Likely benign (Sep 23, 2023)
13-110503236-C-T			Likely benign (Apr 20, 2023)
13-110503248-C-T			Likely benign (Nov 01, 2022)
13-110503250-G-A		Inborn genetic diseases	Uncertain significance (Jan 04, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP