C2-AS1

C2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:31934448-31941724

Links

ENSG00000281756 ∙ NCBI:102060414 ∙ ∙ HGNC:49464 ∙ ∙ ∙ 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 C2-AS1 gene.

• not provided (43 variants)
• Complement component 2 deficiency (11 variants)
• Age related macular degeneration 14 (11 variants)
• Age related macular degeneration 14;Complement component 2 deficiency (2 variants)
• not specified (2 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 C2-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			27	19	2	48
Total	0	0	27	19	2

Variants in C2-AS1

This is a list of pathogenic ClinVar variants found in the C2-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
6-31935903-C-T			Likely benign (Apr 04, 2022)
6-31935915-C-T			Likely benign (Jun 15, 2021)
6-31935916-C-T			Likely benign (Dec 11, 2023)
6-31935917-G-A			Likely benign (Oct 15, 2023)
6-31935943-T-C			Likely benign (Jul 26, 2023)
6-31935946-G-T			Likely benign (Jan 02, 2024)
6-31935949-C-T			Likely benign (Dec 01, 2023)
6-31935956-A-C			Uncertain significance (Mar 12, 2022)
6-31935986-C-T		Complement component 2 deficiency • Age related macular degeneration 14	Uncertain significance (Feb 09, 2018)
6-31935989-AT-A			Pathogenic (Aug 14, 2023)
6-31935998-C-T			Likely benign (Mar 08, 2023)
6-31936002-A-G		Age related macular degeneration 14 • Complement component 2 deficiency	Uncertain significance (Sep 07, 2022)
6-31936003-C-T			Likely benign (Jan 18, 2024)
6-31936004-G-A			Uncertain significance (Aug 22, 2022)
6-31936008-A-G			Uncertain significance (Mar 24, 2022)
6-31936009-C-G		Age related macular degeneration 14 • Complement component 2 deficiency	Conflicting classifications of pathogenicity (Dec 14, 2023)
6-31936013-C-G		not specified	Uncertain significance (Sep 21, 2023)
6-31936014-G-A			Uncertain significance (Oct 17, 2022)
6-31936016-G-A			Uncertain significance (Jul 19, 2022)
6-31936027-G-A			Likely benign (Apr 15, 2023)
6-31936027-G-C		Age related macular degeneration 14 • Complement component 2 deficiency • not specified • Complement component 2 deficiency;Age related macular degeneration 14	Benign/Likely benign (Jan 29, 2024)
6-31936033-C-G			Uncertain significance (May 10, 2022)
6-31936039-C-A			Uncertain significance (Aug 09, 2022)
6-31936043-G-T			Pathogenic (Dec 03, 2022)
6-31936053-A-G		Age related macular degeneration 14 • Complement component 2 deficiency	Uncertain significance (Oct 13, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP