ANK2-AS1

ANK2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:112973272-113071962

Links

ENSG00000248152 ∙ NCBI:105377373 ∙ ∙ HGNC:40076 ∙ ∙ ∙ 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 ANK2-AS1 gene.

• Long QT syndrome (12 variants)
• not provided (9 variants)
• Cardiovascular phenotype (7 variants)
• Cardiac arrhythmia, ankyrin-B-related (5 variants)
• not specified (2 variants)
• Autism spectrum disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANK2-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	11	3	24
Total	0	0	10	11	3

Variants in ANK2-AS1

This is a list of pathogenic ClinVar variants found in the ANK2-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
4-113049340-G-C			Likely benign (Jul 15, 2018)
4-113049603-C-T			Benign (Mar 03, 2015)
4-113049622-A-C			Benign (Mar 03, 2015)
4-113049690-G-T		not specified • Cardiac arrhythmia, ankyrin-B-related	Conflicting classifications of pathogenicity (Jan 13, 2018)
4-113049711-C-G		not specified	Benign (Jul 07, 2015)
4-113049732-A-G		Cardiovascular phenotype	Uncertain significance (Aug 13, 2021)
4-113049734-G-A		Long QT syndrome	Uncertain significance (Jul 07, 2023)
4-113049737-C-T		Long QT syndrome	Likely benign (Jul 23, 2024)
4-113049741-G-T			Uncertain significance (Aug 07, 2024)
4-113049747-G-A		Cardiovascular phenotype	Uncertain significance (Nov 27, 2024)
4-113049757-G-A		Autism spectrum disorder	Likely benign (Jul 28, 2022)
4-113049760-A-T		Cardiovascular phenotype	Uncertain significance (May 22, 2019)
4-113049763-G-T			Uncertain significance (Apr 05, 2021)
4-113049764-T-C		Long QT syndrome	Likely benign (Oct 18, 2022)
4-113049765-G-T		Meniere disease	Uncertain significance (Jun 03, 2024)
4-113049770-G-T		Long QT syndrome	Uncertain significance (Apr 09, 2022)
4-113049776-C-G		Cardiovascular phenotype	Uncertain significance (Jul 28, 2023)
4-113049776-C-T		Cardiovascular phenotype • Long QT syndrome	Likely benign (Mar 14, 2022)
4-113049777-A-G		Cardiovascular phenotype • Meniere disease	Uncertain significance (Sep 18, 2023)
4-113049784-G-A		Cardiac arrhythmia, ankyrin-B-related • Long QT syndrome • Cardiovascular phenotype	Conflicting classifications of pathogenicity (Oct 14, 2024)
4-113049789-CAG-C		Cardiac arrhythmia, ankyrin-B-related	Likely pathogenic (-)
4-113049791-G-A		Long QT syndrome • Cardiovascular phenotype	Likely benign (Apr 19, 2024)
4-113049808-A-C		Long QT syndrome • Cardiac arrhythmia, ankyrin-B-related • Cardiovascular phenotype	Uncertain significance (Oct 27, 2023)
4-113049812-G-A		Long QT syndrome	Uncertain significance (Jan 15, 2024)
4-113049819-C-T		Long QT syndrome • Cardiac arrhythmia, ankyrin-B-related	Benign/Likely benign (Jun 15, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP