NM_001110354.2(ZP3):c.157dup (p.Val53fs) AND Oocyte maturation defect 3

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 12, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001808990.1

Allele description [Variation Report for NM_001110354.2(ZP3):c.157dup (p.Val53fs)]

NM_001110354.2(ZP3):c.157dup (p.Val53fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

7q11.23

Genomic location:

Preferred name:

NM_001110354.2(ZP3):c.157dup (p.Val53fs)

HGVS:

NC_000007.14:g.76425121dup
NG_033938.1:g.32598dup
NM_001110354.2:c.157dupMANE SELECT
NM_007155.6:c.4dup
NP_001103824.1:p.Val53fs
NP_009086.4:p.Val2fs
NC_000007.13:g.76054438dup
NM_001110354.1:c.157dup

Protein change:

V2fs

Links:

dbSNP: rs2115882062

NCBI 1000 Genomes Browser:

rs2115882062

Molecular consequence:

NM_001110354.2:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007155.6:c.4dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007155.6:c.4dup - initiator_codon_variant - [Sequence Ontology: SO:0001582]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002059302	Centogene AG - the Rare Disease Company	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 12, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002059302

Centogene AG - the Rare Disease Company

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 12, 2021)

germline

clinical testing

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Centogene AG - the Rare Disease Company, SCV002059302.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Dec 24, 2023

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