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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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000992281OMIM
no assertion criteria provided
Pathogenic
(Apr 10, 2023) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 15, 2023