NM_001110354.2(ZP3):c.763C>G (p.Arg255Gly) AND Oocyte maturation defect 3

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 10, 2023
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:: RCV000850117.2

Allele description [Variation Report for NM_001110354.2(ZP3):c.763C>G (p.Arg255Gly)]

NM_001110354.2(ZP3):c.763C>G (p.Arg255Gly)

Gene:

ZP3:zona pellucida glycoprotein 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q11.23

Genomic location:

Preferred name:

NM_001110354.2(ZP3):c.763C>G (p.Arg255Gly)

HGVS:

NC_000007.14:g.76434087C>G
NG_033938.1:g.41564C>G
NM_001110354.2:c.763C>GMANE SELECT
NM_007155.6:c.610C>G
NP_001103824.1:p.Arg255Gly
NP_009086.4:p.Arg204Gly
NC_000007.13:g.76063404C>G

Protein change:

R204G; ARG255GLY

Links:

OMIM: 182889.0002; dbSNP: rs1375640377

NCBI 1000 Genomes Browser:

rs1375640377

Molecular consequence:

NM_001110354.2:c.763C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_007155.6:c.610C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Oocyte maturation defect 3
Synonyms:: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 3
Identifiers:: MONDO: MONDO:0021574; MedGen: C4540205; OMIM: 617712

Recent activity

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Cpn60, partial [Caulobacteraceae bacterium SOC A20(60)]
Cpn60, partial [Caulobacteraceae bacterium SOC A20(60)]
gi|119657490|gb|ABL86743.1|

Protein
Sebastes miniatus voucher UW<USA-WA>:114060 16S ribosomal RNA gene, partial sequ...
Sebastes miniatus voucher UW<USA-WA>:114060 16S ribosomal RNA gene, partial sequence; mitochondrial
gi|144953822|gb|EF446595.1|

Nucleotide
Nocardia ninae strain OFN 02.72 65 kDa heat shock protein (hsp65) gene, partial ...
Nocardia ninae strain OFN 02.72 65 kDa heat shock protein (hsp65) gene, partial cds
gi|82400017|gb|DQ250023.1|

Nucleotide
MAG: hypothetical protein C0601_00300 [Candidatus Muiribacterium halophilum]
MAG: hypothetical protein C0601_00300 [Candidatus Muiribacterium halophilum]
gi|1321707549|gb|PLX20032.1||gnl|WG G|C0601_00300

Protein
Bruxism during sleep
Bruxism during sleep

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992281	OMIM	no assertion criteria provided	Pathogenic (Apr 10, 2023)	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

SCV000992281

OMIM

no assertion criteria provided

Pathogenic
(Apr 10, 2023)

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 mutations in ZP1, ZP2, and ZP3 cause female infertility due to abnormal zona pellucida formation.

Zhou Z, Ni C, Wu L, Chen B, Xu Y, Zhang Z, Mu J, Li B, Yan Z, Fu J, Wang W, Zhao L, Dong J, Sun X, Kuang Y, Sang Q, Wang L.

Hum Genet. 2019 Apr;138(4):327-337. doi: 10.1007/s00439-019-01990-1. Epub 2019 Feb 27.

PubMed [citation]

PMID:: 30810869

Details of each submission

From OMIM, SCV000992281.2

#	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 Chinese woman (family 6) with infertility due to absence of oocyte zona pellucida (OZEMA3; 617712), Zhou et al. (2019) identified heterozygosity for a c.763C-G transversion (chr7:76,063,404) in exon 5 of the ZP3 gene, resulting in an arg255-to-gly (R255G) substitution at a conserved residue. The mutation status of her parents was unknown. Studies in CHO cells revealed that expression of the R255G mutant was significantly increased when transfected with the other 3 ZP glycoproteins (ZP1, 195000; ZP2, 182888; and ZP4, 613514), and immunoprecipitation experiments suggested that the R255G mutant bound more efficiently to the other 3 wildtype ZP proteins than did wildtype ZP3.

#	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: Apr 15, 2023

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