CACNA2D1-AS1

CACNA2D1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:82009177-82029955

Links

ENSG00000223770 ∙ NCBI:101927356 ∙ ∙ HGNC:40120 ∙ ∙ ∙ 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 CACNA2D1-AS1 gene.

• Brugada syndrome (30 variants)
• not provided (16 variants)
• Cardiovascular phenotype (13 variants)
• not specified (6 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 CACNA2D1-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			10	26	12	48
Total	0	0	10	26	12

Variants in CACNA2D1-AS1

This is a list of pathogenic ClinVar variants found in the CACNA2D1-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
7-82011872-T-C			Benign (Jun 19, 2018)
7-82012009-A-G			Likely benign (Jul 27, 2018)
7-82012135-G-C		Brugada syndrome	Likely benign (May 08, 2023)
7-82012148-T-TCTTA		Brugada syndrome	Uncertain significance (Nov 26, 2022)
7-82012157-T-G		Cardiovascular phenotype	Likely benign (Jul 29, 2022)
7-82012184-G-A		Brugada syndrome • Cardiovascular phenotype • not specified	Benign (Feb 01, 2025)
7-82012186-C-T		Brugada syndrome • Cardiovascular phenotype	Uncertain significance (Aug 30, 2022)
7-82012199-G-A		Cardiovascular phenotype	Likely benign (Aug 16, 2022)
7-82012202-T-G		Cardiovascular phenotype	Likely benign (Sep 25, 2024)
7-82012216-T-C		Cardiovascular phenotype	Uncertain significance (Oct 25, 2021)
7-82012222-T-G		Brugada syndrome	Likely benign (Nov 07, 2023)
7-82012235-C-T		Brugada syndrome	Likely benign (Feb 05, 2022)
7-82012237-A-G		not specified • Brugada syndrome • Cardiovascular phenotype	Benign (Feb 02, 2025)
7-82012251-TG-T		Brugada syndrome	Likely benign (May 17, 2022)
7-82012251-T-TG		Brugada syndrome	Likely benign (May 14, 2023)
7-82012252-G-A		Brugada syndrome	Likely benign (Oct 29, 2021)
7-82012254-G-A		Brugada syndrome	Likely benign (Aug 31, 2024)
7-82012254-GA-G		Brugada syndrome	Benign (Jan 15, 2025)
7-82012254-G-GA		Brugada syndrome	Benign (Jan 14, 2025)
7-82012255-A-G		not specified • Brugada syndrome	Likely benign (Dec 05, 2024)
7-82012254-G-GAA		Brugada syndrome	Benign (Dec 30, 2024)
7-82012254-G-GAAA		Brugada syndrome	Benign (Feb 02, 2025)
7-82012254-G-GAAAA		not specified • Brugada syndrome	Benign (Feb 03, 2025)
7-82012254-G-GGAAA		Brugada syndrome	Likely benign (Dec 17, 2024)
7-82012254-G-GAAAAA		Brugada syndrome	Benign/Likely benign (Jan 28, 2025)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP