CACNA1C-AS3

CACNA1C antisense RNA 3, the group of Antisense RNAs

Basic information

Region (hg38): 12:2603350-2607440

Links

ENSG00000256769 ∙ ∙ ∙ HGNC:40117 ∙ ∙ ∙ 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 CACNA1C-AS3 gene.

• Long QT syndrome (99 variants)
• not provided (33 variants)
• Cardiovascular phenotype (32 variants)
• not specified (11 variants)
• Timothy syndrome (4 variants)
• Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (3 variants)
• Brugada syndrome 3;Long qt syndrome 8;Timothy syndrome (2 variants)
• Timothy syndrome;Long qt syndrome 8;Brugada syndrome 3 (2 variants)
• History of neurodevelopmental disorder (2 variants)
• Brugada syndrome (1 variants)
• Long qt syndrome 8;Timothy syndrome;Brugada syndrome 3;Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (1 variants)
• Long qt syndrome 8;Brugada syndrome 3;Timothy syndrome (1 variants)
• Congestive heart failure (1 variants)
• Long qt syndrome 8 (1 variants)
• Sudden unexplained death (1 variants)
• Inborn genetic diseases (1 variants)
• See cases (1 variants)
• Timothy syndrome;Brugada syndrome 3;Long qt syndrome 8 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CACNA1C-AS3 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		2	45	66	11	124
Total	0	2	45	66	11

Variants in CACNA1C-AS3

This is a list of pathogenic ClinVar variants found in the CACNA1C-AS3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-2605062-G-C		Long QT syndrome	Uncertain significance (Jul 13, 2023)
12-2605062-G-T		Long QT syndrome	Uncertain significance (Feb 16, 2023)
12-2605076-C-T		not specified • Long QT syndrome • Cardiovascular phenotype	Benign/Likely benign (Apr 25, 2024)
12-2605078-C-T		Long QT syndrome	Uncertain significance (May 14, 2023)
12-2605085-A-G		Long QT syndrome	Uncertain significance (Jun 22, 2017)
12-2605088-G-C		Cardiovascular phenotype	Uncertain significance (Jul 24, 2023)
12-2605090-A-G		Cardiovascular phenotype • Long QT syndrome	Likely benign (Jun 17, 2023)
12-2605095-A-G			Uncertain significance (Apr 08, 2024)
12-2605097-G-C			Likely pathogenic (Aug 03, 2023)
12-2605099-C-T		Long QT syndrome • Cardiovascular phenotype	Likely benign (Dec 19, 2023)
12-2605107-T-C		Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Uncertain significance (Jan 17, 2023)
12-2605108-C-T		Cardiovascular phenotype • Long QT syndrome	Likely benign (Nov 09, 2023)
12-2605113-G-A		Long QT syndrome	Uncertain significance (Jun 16, 2020)
12-2605121-C-T			Pathogenic (Nov 12, 2023)
12-2605122-G-A		Long QT syndrome	Uncertain significance (Nov 24, 2021)
12-2605138-G-A		Long QT syndrome	Likely benign (Nov 09, 2022)
12-2605140-G-C			Uncertain significance (Jul 25, 2023)
12-2605168-G-A		Long QT syndrome	Uncertain significance (Oct 24, 2022)
12-2605171-G-A		Long QT syndrome	Uncertain significance (Aug 09, 2023)
12-2605173-G-A		Long QT syndrome	Uncertain significance (Mar 19, 2023)
12-2605187-T-C		Long QT syndrome	Likely benign (Nov 02, 2023)
12-2605188-A-C		Long QT syndrome	Likely benign (Jan 06, 2023)
12-2605553-C-T		Long QT syndrome	Benign/Likely benign (Dec 31, 2019)
12-2605587-G-A			Benign (Jun 26, 2018)
12-2605661-C-G		Long QT syndrome	Likely benign (Jul 25, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP