NM_001163560.3(MEIOB):c.1072_1073del (p.Met358fs) AND Premature ovarian failure 23

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 22, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003493400.2

Allele description [Variation Report for NM_001163560.3(MEIOB):c.1072_1073del (p.Met358fs)]

NM_001163560.3(MEIOB):c.1072_1073del (p.Met358fs)

Genes:

FAHD1:fumarylacetoacetate hydrolase domain containing 1 [Gene - OMIM - HGNC]
MEIOB:meiosis specific with OB-fold [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16p13.3

Genomic location:

Preferred name:

NM_001163560.3(MEIOB):c.1072_1073del (p.Met358fs)

HGVS:

NC_000016.10:g.1839400_1839401del
NM_001018104.3:c.*147_*148del
NM_001142398.2:c.*94_*95del
NM_001163560.3:c.1072_1073delMANE SELECT
NM_152764.3:c.1072_1073del
NP_001157032.1:p.Met358fs
NP_689977.2:p.Met358fs
NC_000016.9:g.1889401_1889402del

Protein change:

M358fs

Links:

OMIM: 617670.0004

Molecular consequence:

NM_001018104.3:c.*147_*148del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001142398.2:c.*94_*95del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001163560.3:c.1072_1073del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_152764.3:c.1072_1073del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Premature ovarian failure 23 (POF23)
Identifiers:: MONDO: MONDO:0958035; MedGen: C5882747; OMIM: 620686

Recent activity

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Sectoria heterognathos voucher KIZ 20150177 cytochrome oxidase subunit I gene, p...
Sectoria heterognathos voucher KIZ 20150177 cytochrome oxidase subunit I gene, partial cds; mitochondrial
gi|1464920909|gb|MG238203.1|

Nucleotide
latent transforming growth factor beta binding protein 2, isoform CRA_b, partial...
latent transforming growth factor beta binding protein 2, isoform CRA_b, partial [Homo sapiens]
gi|119601589|gb|EAW81183.1||gnl|WGS |hCP1867251

Protein
PREDICTED: Coregonus clupeaformis plectin-like (LOC121540869), mRNA
PREDICTED: Coregonus clupeaformis plectin-like (LOC121540869), mRNA
gi|2157031673|ref|XM_045207909.1|

Nucleotide
Homo sapiens solute carrier family 8 member A1 (SLC8A1), transcript variant R, m...
Homo sapiens solute carrier family 8 member A1 (SLC8A1), transcript variant R, mRNA
gi|2020513407|ref|NM_001372263.2|

Nucleotide
Chain B, Unknown peptide, probably from expression host
Chain B, Unknown peptide, probably from expression host
gi|340708121|pdb|3RS9|B

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004242230	OMIM	no assertion criteria provided	Pathogenic (Jan 22, 2024)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004242230

OMIM

no assertion criteria provided

Pathogenic
(Jan 22, 2024)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia.

Wang Y, Liu L, Tan C, Meng G, Meng L, Nie H, Du J, Lu GX, Lin G, He WB, Tan YQ.

Front Genet. 2022;13:936264. doi: 10.3389/fgene.2022.936264.

PubMed [citation]

PMID:: 35991565
PMCID:: PMC9388730

Details of each submission

From OMIM, SCV004242230.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 29-year-old Han Chinese man (family 3) with infertility due to nonobstructive azoospermia (SPGF22; 617706), Wang et al. (2022) identified homozygosity for a 2-bp deletion (c.1072_1073del, NM_001163560) in the MEIOB gene, causing a frameshift (Met358fs) predicted to result in a premature termination codon within the OBCD3 domain. The proband was born of consanguineous parents, but familial segregation was not reported. The authors also identified homozygosity for the same 2-bp deletion in 2 Han Chinese sisters (family 1) with infertility due to premature ovarian failure (POF23; 620686). The sisters were also homozygous for another 2-bp deletion in MEIOB (c.258_259del), causing a frameshift (Cys86fs) predicted to result in a premature termination codon within the OBCD1 domain. Their unaffected first-cousin parents were both heterozygous for both deletions. Western blot of transfected HEK293T cells showed production of truncated proteins, and immunofluorescence analysis showed that neither mutant protein colocalized with SPATA22 in the nucleus, consistent with loss of function.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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