MEIOB

meiosis specific with OB-fold

Basic information

Region (hg38): 16:1833985-1872178

Previous symbols: [ "C16orf73" ]

Links

ENSG00000162039 ∙ NCBI:254528 ∙ OMIM:617670 ∙ HGNC:28569 ∙ Uniprot:Q8N635 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• male infertility with azoospermia or oligozoospermia due to single gene mutation (Supportive), mode of inheritance: AD
• spermatogenic failure 22 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Premature ovarian failure 23	AR	Obstetric	Genetic knowledge may be beneficial to allow interventions such as preserving eggs in women with premature ovarian insufficiency	Genitourinary; Obstetric	28206990; 31000419; 34392356; 35991565

ClinVar

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

• not provided (2 variants)
• Premature ovarian failure 23 (1 variants)
• Spermatogenic failure 22 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEIOB 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			26	1	6	33
nonsense	1					1
start loss						0
frameshift	1					1
inframe indel						0
splice donor/acceptor (+/-2bp)		1				1
splice region				2	1	3
non coding						0
Total	2	1	26	1	7

Highest pathogenic variant AF is 0.000112

Variants in MEIOB

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

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

Position	Type	Phenotype	Significance	ClinVar
16-1834265-T-G		not specified	Uncertain significance (Sep 22, 2023)
16-1834352-G-T		not specified	Uncertain significance (Jul 29, 2023)
16-1834363-C-G		not specified	Uncertain significance (Feb 14, 2023)
16-1834363-C-T		not specified	Uncertain significance (Feb 21, 2024)
16-1834371-G-A			Benign (Jul 19, 2018)
16-1837794-A-C		not specified	Uncertain significance (Oct 28, 2023)
16-1837813-G-T		not specified	Uncertain significance (Mar 01, 2023)
16-1837846-C-T		not specified	Uncertain significance (May 30, 2023)
16-1839255-C-T		Premature ovarian failure 23	Pathogenic (Jan 22, 2024)
16-1839256-G-A		not specified	Uncertain significance (Dec 15, 2022)
16-1839264-CAA-C			Pathogenic (Jun 27, 2022)
16-1839351-GAGAA-G		Azoospermia	Pathogenic (Dec 20, 2021)
16-1839399-CAT-C		Spermatogenic failure 22 • Premature ovarian failure 23	Pathogenic (Jan 22, 2024)
16-1839439-C-T			Likely pathogenic (Jun 27, 2022)
16-1841842-T-G		not specified	Uncertain significance (Apr 13, 2022)
16-1841878-C-T		Spermatogenic failure 22	Pathogenic (Jan 22, 2024)
16-1841902-C-A			Benign (Jun 15, 2018)
16-1841913-T-C		not specified	Uncertain significance (Mar 19, 2024)
16-1844911-C-T		MEIOB-related disorder	Benign (Oct 22, 2019)
16-1844928-G-A		Spermatogenic failure 22 • Premature ovarian failure 23	Pathogenic (Jun 27, 2022)
16-1844951-G-C		not specified	Uncertain significance (May 10, 2024)
16-1844958-G-A		not specified	Uncertain significance (Apr 25, 2022)
16-1844960-A-G		MEIOB-related disorder	Benign (Oct 23, 2019)
16-1853057-T-C		not specified	Uncertain significance (Mar 31, 2024)
16-1853075-T-G		not specified	Uncertain significance (Mar 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MEIOB	protein_coding	protein_coding	ENST00000412554	13	50312

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.99e-14	0.0200	125677	0	68	125745	0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.891	184	221	0.831	0.0000107	3095
Missense in Polyphen		38	54.689	0.69484		776
Synonymous	0.395	71	75.4	0.942	0.00000363	871
Loss of Function	0.0672	21	21.3	0.984	0.00000114	299

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000508	0.000497
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.0000938	0.0000924
European (Non-Finnish)	0.000315	0.000290
Middle Eastern	0.000164	0.000163
South Asian	0.000667	0.000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Single-stranded DNA-binding protein required for homologous recombination in meiosis I. Required for double strand breaks (DSBs) repair and crossover formation and promotion of faithful and complete synapsis. Not required for the initial loading of recombinases but required to maintain a proper number of RAD51 and DMC1 foci after the zygotene stage. May act by ensuring the stabilization of recombinases, which is required for successful homology search and meiotic recombination. Displays Single-stranded DNA 3'-5' exonuclease activity in vitro (By similarity). {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 1
• rvis_percentile_EVS: 90.62

Haploinsufficiency Scores

• pHI: 0.130
• hipred: N
• hipred_score: 0.238

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Meiob
• Phenotype: reproductive system phenotype; endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype

Gene ontology

• Biological process: resolution of meiotic recombination intermediates;double-strand break repair via homologous recombination;synapsis;male meiotic nuclear division;male meiosis I;female meiosis I;fertilization;nucleic acid phosphodiester bond hydrolysis
• Cellular component: nucleus;chromosome;cytoplasm
• Molecular function: chromatin binding;single-stranded DNA binding;single-stranded DNA 3'-5' exodeoxyribonuclease activity