AFG2B

AFG2 AAA ATPase homolog B, the group of AAA ATPases

Basic information

Region (hg38): 15:45402336-45421415

Previous symbols: [ "SPATA5L1" ]

Links

ENSG00000171763 ∙ NCBI:79029 ∙ OMIM:619578 ∙ HGNC:28762 ∙ Uniprot:Q9BVQ7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• neurodevelopmental disorder with hearing loss and spasticity (Moderate), mode of inheritance: AR
• hearing loss, autosomal recessive 119 (Strong), mode of inheritance: AR
• neurodevelopmental disorder with hearing loss and spasticity (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, autosomal recessive 119; Neurodevelopmental disorder with hearing loss and spasticity	AR	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic; Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic	34626583

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AFG2B gene.

• Inborn_genetic_diseases (97 variants)
• not_provided (38 variants)
• Neurodevelopmental_disorder_with_hearing_loss_and_spasticity (14 variants)
• SPATA5L1-associated_disorder (7 variants)
• Hearing_loss,_autosomal_recessive_119 (6 variants)
• See_cases (6 variants)
• AFG2B-related_disorder (4 variants)
• SPATA5L1-related_disorder (2 variants)
• Neurodevelopmental_delay (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AFG2B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024063.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				7		7
missense		13	104	5	2	124
nonsense	1	1				2
start loss			1			1
frameshift	3	2				5
splice donor/acceptor (+/-2bp)	1					1
Total	5	16	105	12	2

Highest pathogenic variant AF is 0.00144053

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AFG2B	protein_coding	protein_coding	ENST00000305560	8	19089

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.55e-11	0.508	125636	0	112	125748	0.000445

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.861	346	394	0.878	0.0000190	4685
Missense in Polyphen		94	115.98	0.81051		1376
Synonymous	0.480	162	170	0.953	0.00000872	1691
Loss of Function	1.28	20	27.2	0.735	0.00000158	303

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000968	0.000958
Ashkenazi Jewish	0.000993	0.000993
East Asian	0.000989	0.000979
Finnish	0.00	0.00
European (Non-Finnish)	0.000410	0.000404
Middle Eastern	0.000989	0.000979
South Asian	0.000266	0.000261
Other	0.000816	0.000815

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0896

Intolerance Scores

• loftool: 0.211
• rvis_EVS: -0.22
• rvis_percentile_EVS: 37.54

Haploinsufficiency Scores

• pHI: 0.230
• hipred: N
• hipred_score: 0.295
• ghis: 0.476

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Spata5l1

Gene ontology

• Cellular component: cytoplasm
• Molecular function: ATP binding;ATPase activity