ETS2-AS1

ETS2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 21:38812878-38966406

Links

ENSG00000205622 ∙ NCBI:400867 ∙ ∙ HGNC:56712 ∙ ∙ ∙ 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 ETS2-AS1 gene.

• Inborn genetic diseases (18 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ETS2-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			18	1	3	22
Total	0	0	18	1	3

Variants in ETS2-AS1

This is a list of pathogenic ClinVar variants found in the ETS2-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
21-38813003-C-T		not specified	Uncertain significance (Oct 26, 2021)
21-38813004-G-A		not specified	Uncertain significance (Feb 28, 2023)
21-38813019-A-G		not specified	Uncertain significance (Jul 30, 2024)
21-38814278-G-A			Benign (Dec 31, 2019)
21-38814284-T-C		not specified	Uncertain significance (Sep 01, 2021)
21-38814325-G-A		not specified	Uncertain significance (Sep 12, 2023)
21-38814331-A-G			Benign/Likely benign (Mar 01, 2022)
21-38814371-C-T		not specified	Uncertain significance (Jan 16, 2024)
21-38814372-G-A		not specified	Uncertain significance (Aug 02, 2021)
21-38814811-G-A		not specified	Uncertain significance (Dec 08, 2023)
21-38814873-G-A		not specified	Uncertain significance (Apr 01, 2024)
21-38817068-A-G		not specified	Uncertain significance (Mar 07, 2023)
21-38818449-A-T		not specified	Uncertain significance (Oct 26, 2022)
21-38818456-G-A		not specified	Uncertain significance (Jun 03, 2022)
21-38818484-C-A			Benign (Feb 01, 2024)
21-38818490-G-A		not specified	Uncertain significance (Sep 13, 2023)
21-38818503-C-T		not specified	Uncertain significance (Jun 21, 2021)
21-38818515-C-G		not specified	Uncertain significance (Oct 16, 2024)
21-38818520-G-A		not specified	Uncertain significance (Jun 22, 2021)
21-38818526-A-C		not specified	Uncertain significance (Jun 16, 2024)
21-38818532-G-C		not specified	Uncertain significance (Mar 20, 2024)
21-38818535-C-G		not specified	Uncertain significance (Sep 16, 2021)
21-38818553-C-T		not specified	Uncertain significance (Aug 02, 2021)
21-38818562-C-T		not specified	Uncertain significance (Aug 21, 2024)
21-38818563-G-A		not specified	Uncertain significance (Apr 06, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP