NKX2-2-AS1

NKX2-2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:21511447-21513711

Links

ENSG00000258197 ∙ ∙ ∙ HGNC:37154 ∙ ∙ ∙ 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 NKX2-2-AS1 gene.

• not provided (4 variants)
• NKX2-2-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NKX2-2-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			3	2		5
Total	0	0	3	2	0

Variants in NKX2-2-AS1

This is a list of pathogenic ClinVar variants found in the NKX2-2-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
20-21511964-T-C		Inborn genetic diseases	Uncertain significance (Jan 28, 2021)
20-21512015-G-A			Uncertain significance (Oct 19, 2022)
20-21512022-C-T			Likely benign (Dec 03, 2021)
20-21512028-C-A			Likely benign (May 14, 2022)
20-21512029-G-A			Uncertain significance (Jun 13, 2023)
20-21512037-G-T			Likely benign (May 15, 2024)
20-21512052-G-T			Likely benign (Dec 18, 2022)
20-21512057-C-T		Inborn genetic diseases	Uncertain significance (Jan 28, 2021)
20-21512068-G-A			Likely benign (Jan 07, 2025)
20-21512139-C-A			Benign (Sep 06, 2024)
20-21512157-G-C			Likely benign (Dec 30, 2024)
20-21512211-G-A			Likely benign (Jun 15, 2023)
20-21512221-C-T		NKX2-2-related disorder	Uncertain significance (Jul 31, 2023)
20-21512283-C-A			Likely benign (Apr 25, 2024)
20-21512286-C-A			Likely benign (Sep 22, 2024)
20-21512360-G-T			Likely benign (Dec 08, 2022)
20-21512376-C-T			Likely benign (Jul 14, 2022)
20-21512380-C-G			Benign (Feb 01, 2025)
20-21512382-G-C			Likely benign (Jul 01, 2024)
20-21512388-CG-C			Likely pathogenic (Dec 20, 2023)
20-21512449-G-A		not specified	Uncertain significance (Jun 21, 2018)
20-21512459-G-T			Uncertain significance (Jan 01, 2025)
20-21512478-A-G		NKX2-2-related disorder	Likely benign (Aug 03, 2023)
20-21512479-C-T		Inborn genetic diseases	Uncertain significance (Jun 22, 2021)
20-21512489-G-A			Likely benign (Apr 23, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP