NDUFV2-AS1

NDUFV2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 18:9121176-9136645

Links

ENSG00000266053 ∙ NCBI:101927275 ∙ ∙ HGNC:50826 ∙ ∙ ∙ 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 NDUFV2-AS1 gene.

• not provided (54 variants)
• Mitochondrial complex I deficiency, nuclear type 1 (11 variants)
• Mitochondrial complex 1 deficiency, nuclear type 7 (8 variants)
• Inborn genetic diseases (7 variants)
• not specified (6 variants)
• Mitochondrial complex I deficiency (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NDUFV2-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	3	33	26	5	70
Total	3	3	33	26	5

Highest pathogenic variant AF is 0.0000132

Variants in NDUFV2-AS1

This is a list of pathogenic ClinVar variants found in the NDUFV2-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
18-9122488-A-G			Likely benign (Jun 14, 2018)
18-9122503-A-G		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)
18-9122506-AT-A		not specified • Mitochondrial complex 1 deficiency, nuclear type 7	Benign (Jan 29, 2025)
18-9122530-A-G			Likely benign (Aug 20, 2024)
18-9122531-G-A		Inborn genetic diseases	Uncertain significance (Oct 06, 2021)
18-9122534-C-A		Inborn genetic diseases	Uncertain significance (Aug 17, 2022)
18-9122536-T-A		not specified	Likely benign (Apr 19, 2016)
18-9122536-T-C			Likely benign (Nov 27, 2023)
18-9122558-G-C		Mitochondrial complex 1 deficiency, nuclear type 7	Likely pathogenic (Jun 01, 2022)
18-9122573-A-G			Uncertain significance (Oct 15, 2024)
18-9122593-T-C		NDUFV2-related disorder	Likely benign (Oct 31, 2019)
18-9122604-A-T			Uncertain significance (Sep 05, 2024)
18-9122605-C-CA			Pathogenic (Nov 29, 2022)
18-9122625-C-T			Uncertain significance (Oct 25, 2024)
18-9122627-C-A		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 12, 2018)
18-9122627-C-T			Uncertain significance (Sep 06, 2024)
18-9122639-C-T		Mitochondrial complex 1 deficiency, nuclear type 7	Uncertain significance (-)
18-9122640-G-A		Mitochondrial complex 1 deficiency, nuclear type 7	Uncertain significance (Dec 03, 2019)
18-9122643-ACT-A			Likely pathogenic (Apr 03, 2017)
18-9122646-C-CT		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Oct 16, 2018)
18-9122654-A-C		Mitochondrial complex I deficiency, nuclear type 1	Uncertain significance (Jan 13, 2018)
18-9122693-A-G		Mitochondrial complex I deficiency, nuclear type 1	Conflicting classifications of pathogenicity (Nov 08, 2022)
18-9122694-T-A			Likely benign (Sep 06, 2024)
18-9122696-A-G			Likely benign (Jul 09, 2024)
18-9122955-GATTGTTTCACTTAGAAA-G			Likely benign (Feb 18, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP