NDUFV3

NADH:ubiquinone oxidoreductase subunit V3, the group of NADH:ubiquinone oxidoreductase supernumerary subunits

Basic information

Region (hg38): 21:42879644-42913304

Links

ENSG00000160194 ∙ NCBI:4731 ∙ OMIM:602184 ∙ HGNC:7719 ∙ Uniprot:P56181 ∙ AlphaFold ∙ 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 NDUFV3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NDUFV3 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				6	2	8
missense			26	6		32
nonsense			1		1	2
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2		2
non coding				2		2
Total	0	0	27	14	3

Variants in NDUFV3

This is a list of pathogenic ClinVar variants found in the NDUFV3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
21-42893341-C-A		NDUFV3-related disorder	Likely benign (May 23, 2023)
21-42893343-C-T		NDUFV3-related disorder	Likely benign (Mar 09, 2022)
21-42893344-C-G		NDUFV3-related disorder	Conflicting classifications of pathogenicity (Nov 14, 2023)
21-42893356-G-T		not specified	Uncertain significance (Apr 11, 2023)
21-42893371-G-A		not specified	Uncertain significance (Jun 07, 2024)
21-42893388-G-A		NDUFV3-related disorder	Likely benign (Dec 30, 2021)
21-42896966-T-C		not specified	Uncertain significance (Feb 02, 2024)
21-42897007-G-C		not specified	Uncertain significance (Jun 07, 2023)
21-42897046-A-C		not specified • NDUFV3-related disorder	Likely benign (Mar 29, 2016)
21-42903179-C-T		NDUFV3-related disorder	Likely benign (Feb 19, 2019)
21-42903203-G-C		not specified	Uncertain significance (Jun 12, 2023)
21-42903222-C-T		NDUFV3-related disorder	Likely benign (Feb 18, 2019)
21-42903278-C-T		not specified	Likely benign (Aug 12, 2021)
21-42903344-G-A		not specified	Uncertain significance (Aug 10, 2021)
21-42903346-G-A		not specified	Uncertain significance (Jan 16, 2024)
21-42903351-G-A		NDUFV3-related disorder	Benign (Aug 02, 2019)
21-42903374-T-C		not specified	Uncertain significance (May 29, 2024)
21-42903380-A-C		not specified	Uncertain significance (Jan 04, 2022)
21-42903400-T-G		not specified	Uncertain significance (Nov 30, 2022)
21-42903436-C-T		not specified	Uncertain significance (Sep 26, 2023)
21-42903440-A-C		not specified	Uncertain significance (Mar 15, 2024)
21-42903448-C-T		not specified	Uncertain significance (Dec 28, 2023)
21-42903480-T-G			Benign (Mar 03, 2015)
21-42903486-C-A		not specified	Uncertain significance (Jan 16, 2024)
21-42903486-C-T		NDUFV3-related disorder	Likely benign (Nov 27, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NDUFV3	protein_coding	protein_coding	ENST00000354250	4	33661

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.80e-18	0.000317	125626	1	107	125734	0.000430

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.310	270	256	1.05	0.0000151	3027
Missense in Polyphen		76	67.693	1.1227		862
Synonymous	-0.493	119	112	1.06	0.00000758	1003
Loss of Function	-1.50	23	16.4	1.40	0.00000101	210

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000685	0.0000685
Ashkenazi Jewish	0.00261	0.00238
East Asian	0.00	0.00
Finnish	0.000162	0.000139
European (Non-Finnish)	0.000871	0.000660
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000565	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. May be the terminally assembled subunit of Complex I. {ECO:0000269|PubMed:27626371}.
• Pathway: Retrograde endocannabinoid signaling - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Oxidative phosphorylation - Homo sapiens (human);Parkinson,s disease - Homo sapiens (human);Electron Transport Chain;Oxidative phosphorylation;Respiratory electron transport;The citric acid (TCA) cycle and respiratory electron transport;Metabolism;FOXA1 transcription factor network;Complex I biogenesis;Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.;Validated nuclear estrogen receptor alpha network (Consensus)

Recessive Scores

• pRec: 0.0898

Intolerance Scores

• loftool: 0.300
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.65

Haploinsufficiency Scores

• pHI: 0.0387
• hipred: N
• hipred_score: 0.123
• ghis: 0.427

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.780

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ndufv3

Gene ontology

• Biological process: mitochondrial electron transport, NADH to ubiquinone;mitochondrial respiratory chain complex I assembly;mitochondrial ATP synthesis coupled electron transport
• Cellular component: nucleoplasm;mitochondrion;mitochondrial inner membrane;mitochondrial respiratory chain complex I
• Molecular function: RNA binding;NADH dehydrogenase (ubiquinone) activity