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NM_001110354.2(ZP3):c.400G>A (p.Ala134Thr) AND Empty follicle syndrome

Germline classification:
Pathogenic (1 submission)
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:
RCV000505809.1

Allele description

NM_001110354.2(ZP3):c.400G>A (p.Ala134Thr)

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.400G>A (p.Ala134Thr)
HGVS:
  • NC_000007.14:g.76429602G>A
  • NG_033938.1:g.37079G>A
  • NM_001110354.2:c.400G>AMANE SELECT
  • NM_007155.6:c.247G>A
  • NP_001103824.1:p.Ala134Thr
  • NP_009086.4:p.Ala83Thr
  • NC_000007.13:g.76058919G>A
  • NM_001110354.1:c.400G>A
Protein change:
A134T; ALA134THR
Links:
OMIM: 182889.0001; dbSNP: rs1554625334
NCBI 1000 Genomes Browser:
rs1554625334
Molecular consequence:
  • NM_001110354.2:c.400G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007155.6:c.247G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on protein interaction [Variation Ontology: 0058]

Condition(s)

Name:
Empty follicle syndrome
Identifiers:
MedGen: C1328577

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000584171Zi-Jiang Chen Lab, Shandong University
no assertion criteria provided
Pathogenicpaternal, de novoresearch, phenotyping only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Chinese Hande novoyes1not providednot providednot providednot providedphenotyping only
Chinese Hanpaternalyes1not providednot providednot providednot providedresearch

Citations

PubMed

A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility.

Chen T, Bian Y, Liu X, Zhao S, Wu K, Yan L, Li M, Yang Z, Liu H, Zhao H, Chen ZJ.

Am J Hum Genet. 2017 Sep 7;101(3):459-465. doi: 10.1016/j.ajhg.2017.08.001.

PubMed [citation]
PMID:
28886344
PMCID:
PMC5590947

Details of each submission

From Zi-Jiang Chen Lab, Shandong University, SCV000584171.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Chinese Han1not providednot providedresearch PubMed (1)
2Chinese Han1not providednot providedphenotyping only PubMed (1)

Description

We identified a heterozygous missense mutation of ZP3 c.400 G>A (NM_001110354.1) from a large family with multiple women affected by empty follicle syndrome (EFS). This mutation was also found in another big family affected by EFS as well as in two additional simplex cases with the same phenotype (the mutation of one of the simplex cases was de novo). The mutation was absent in public databases including dbSNP, 1000 Genomes Project, the NHLBI Exome Variant Server (EVS), the Exome Aggregation Consortium (ExAC) and gnomAD datebase. The mutation was also absent in our in-house 2,213 population-based Han Chinese controls and 400 healthy Han Chinese women with normal fertility.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided1not providednot providednot provided
2de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2023