AIFM3

apoptosis inducing factor mitochondria associated 3

Basic information

Region (hg38): 22:20965107-20981360

Links

ENSG00000183773 ∙ NCBI:150209 ∙ OMIM:617298 ∙ HGNC:26398 ∙ Uniprot:Q96NN9 ∙ 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 AIFM3 gene.

• Inborn genetic diseases (27 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AIFM3 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				1		1
missense			27			27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	1	0

Variants in AIFM3

This is a list of pathogenic ClinVar variants found in the AIFM3 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-20973346-G-A		not specified	Uncertain significance (Dec 19, 2023)
22-20973358-A-C		not specified	Uncertain significance (Feb 10, 2022)
22-20973364-C-T		not specified	Uncertain significance (Mar 29, 2022)
22-20973369-A-T		not specified	Uncertain significance (Mar 11, 2024)
22-20973414-C-T		not specified	Uncertain significance (Mar 04, 2024)
22-20973436-G-T		not specified	Uncertain significance (Aug 22, 2023)
22-20973822-G-T		not specified	Uncertain significance (Jan 31, 2022)
22-20973825-C-G		not specified	Uncertain significance (Oct 27, 2021)
22-20973834-A-G		not specified	Uncertain significance (May 31, 2023)
22-20973855-C-T		not specified	Uncertain significance (Mar 24, 2023)
22-20974074-C-T		not specified	Uncertain significance (Jun 02, 2023)
22-20974080-C-T		not specified	Uncertain significance (Dec 26, 2023)
22-20974598-C-T		not specified	Uncertain significance (Jul 14, 2023)
22-20974607-T-A		not specified	Uncertain significance (Mar 29, 2023)
22-20974724-G-A		not specified	Uncertain significance (Jan 20, 2023)
22-20974737-G-A		not specified	Uncertain significance (Oct 03, 2023)
22-20974782-G-A		not specified	Uncertain significance (Jul 20, 2021)
22-20974811-A-T		not specified	Uncertain significance (Jun 03, 2022)
22-20976419-T-A		not specified	Uncertain significance (Nov 18, 2022)
22-20976448-G-A		not specified	Uncertain significance (Dec 26, 2023)
22-20976459-C-T			Likely benign (May 01, 2022)
22-20976460-C-T		not specified	Uncertain significance (Nov 14, 2023)
22-20976461-G-A		not specified	Uncertain significance (Feb 03, 2022)
22-20976484-G-A		not specified	Uncertain significance (Nov 02, 2023)
22-20976511-G-A		not specified	Uncertain significance (Mar 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AIFM3	protein_coding	protein_coding	ENST00000399167	20	16254

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.95e-14	0.569	125570	1	177	125748	0.000708

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.998	329	384	0.857	0.0000245	3890
Missense in Polyphen		130	138.82	0.93644		1398
Synonymous	0.122	161	163	0.988	0.0000112	1203
Loss of Function	1.61	27	37.7	0.716	0.00000210	390

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000972	0.000934
Ashkenazi Jewish	0.000695	0.000695
East Asian	0.000828	0.000816
Finnish	0.00182	0.00171
European (Non-Finnish)	0.000738	0.000730
Middle Eastern	0.000828	0.000816
South Asian	0.000395	0.000392
Other	0.000496	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential. {ECO:0000269|PubMed:15764604}.

Recessive Scores

• pRec: 0.132

Intolerance Scores

• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.24

Haploinsufficiency Scores

• pHI: 0.145
• hipred: N
• hipred_score: 0.408
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.157

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aifm3

Zebrafish Information Network

• Gene name: aifm3
• Affected structure: pronephric proximal convoluted tubule
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Biological process: oxidation-reduction process;execution phase of apoptosis
• Cellular component: nucleus;mitochondrion;mitochondrial inner membrane;endoplasmic reticulum;cytosol
• Molecular function: oxidoreductase activity;metal ion binding;flavin adenine dinucleotide binding;2 iron, 2 sulfur cluster binding