ATP2C2-AS1

ATP2C2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 16:84459259-84467361

Links

ENSG00000261286 ∙ NCBI:105371374 ∙ ∙ HGNC:53167 ∙ ∙ ∙ 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 ATP2C2-AS1 gene.

• Inborn genetic diseases (34 variants)
• not provided (27 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ATP2C2-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)					1	1
splice region						0
non coding			34	10	14	58
Total	0	0	34	10	15

Variants in ATP2C2-AS1

This is a list of pathogenic ClinVar variants found in the ATP2C2-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
16-84459265-C-T		ATP2C2-related disorder	Likely benign (Jul 18, 2019)
16-84459271-A-G		not specified	Uncertain significance (Aug 28, 2021)
16-84459272-G-C		not specified	Uncertain significance (Jul 06, 2021)
16-84459278-C-G		not specified	Uncertain significance (Sep 14, 2023)
16-84459279-C-T			Benign (Oct 01, 2022)
16-84459280-G-A		not specified	Uncertain significance (May 04, 2023)
16-84459280-G-T		not specified	Conflicting classifications of pathogenicity (Oct 03, 2023)
16-84459285-G-A		ATP2C2-related disorder	Benign (Sep 11, 2018)
16-84459298-C-T			Likely benign (May 18, 2018)
16-84459299-T-G		not specified	Uncertain significance (Apr 09, 2024)
16-84459303-C-T		ATP2C2-related disorder	Likely benign (Aug 07, 2019)
16-84459307-G-T		not specified	Uncertain significance (Aug 23, 2021)
16-84459312-C-G		not specified	Uncertain significance (Dec 21, 2023)
16-84459313-A-G		not specified	Uncertain significance (Aug 10, 2021)
16-84459318-G-T		ATP2C2-related disorder	Likely benign (Jun 08, 2018)
16-84459355-A-C		not specified	Uncertain significance (Jan 08, 2024)
16-84459372-G-T		ATP2C2-related disorder	Benign (Sep 26, 2018)
16-84459377-C-A		ATP2C2-related disorder	Benign (Apr 01, 2019)
16-84459381-G-A			Likely benign (Oct 01, 2022)
16-84459395-G-T		ATP2C2-related disorder	Benign (Dec 31, 2019)
16-84459498-T-A		ATP2C2-related disorder	Likely benign (Oct 28, 2019)
16-84459534-A-G		ATP2C2-related disorder	Likely benign (Nov 07, 2019)
16-84459594-T-C		ATP2C2-related disorder	Likely benign (Jan 11, 2021)
16-84460646-C-T		ATP2C2-related disorder	Benign (Jul 19, 2021)
16-84460658-G-C		not specified	Uncertain significance (Mar 20, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP