CACNA2D3-AS1

CACNA2D3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:54874605-54901258

Links

ENSG00000243715 ∙ ∙ ∙ HGNC:40702 ∙ ∙ ∙ 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 CACNA2D3-AS1 gene.

• Inborn genetic diseases (10 variants)
• not provided (2 variants)
• CACNA2D3-related condition (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CACNA2D3-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			12	1	1	14
Total	0	0	12	1	1

Variants in CACNA2D3-AS1

This is a list of pathogenic ClinVar variants found in the CACNA2D3-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
3-54879327-CTT-C		CACNA2D3-related disorder	Benign (Mar 29, 2019)
3-54880821-C-A		CACNA2D3-related disorder	Uncertain significance (Jan 13, 2023)
3-54885553-C-G		not specified	Uncertain significance (Feb 23, 2023)
3-54887985-C-T		not specified	Uncertain significance (Feb 23, 2023)
3-54887989-T-G		not specified	Uncertain significance (Dec 17, 2021)
3-54887993-C-T		CACNA2D3-related disorder	Likely benign (Aug 27, 2019)
3-54888001-T-C		not specified	Uncertain significance (Sep 30, 2022)
3-54888006-G-A		CACNA2D3-related disorder	Uncertain significance (May 19, 2023)
3-54888013-T-C		not specified	Uncertain significance (Apr 15, 2024)
3-54891389-G-A		not specified	Uncertain significance (Jan 27, 2022)
3-54891399-C-T		CACNA2D3-related disorder	Benign (Jul 11, 2018)
3-54891404-C-G		not specified	Uncertain significance (Nov 07, 2023)
3-54891420-T-C		not specified	Uncertain significance (Nov 09, 2021)
3-54891422-T-C		not specified	Uncertain significance (Jan 11, 2023)
3-54891437-C-G		not specified	Uncertain significance (Aug 01, 2022)
3-54896768-G-A		not specified	Uncertain significance (May 04, 2023)
3-54896788-C-T		CACNA2D3-related disorder	Likely benign (Jan 02, 2024)
3-54896795-C-T		CACNA2D3-related disorder	Uncertain significance (Nov 01, 2023)
3-54896806-C-G			Likely benign (Jul 01, 2022)
3-54899841-G-A		not specified	Uncertain significance (Mar 20, 2023)
3-54899845-A-G		CACNA2D3-related disorder	Likely benign (Dec 20, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP