NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jun 15, 2017
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:: RCV000167554.3

Allele description [Variation Report for NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)]

NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)

Gene:

ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q22.3

Genomic location:

Preferred name:

NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)

Other names:

p.R302*:CGA>TGA; NM_014795.4(ZEB2):c.904C>T; p.Arg302Ter

HGVS:

NC_000002.12:g.144401211G>A
NG_016431.1:g.124181C>T
NM_001171653.2:c.832C>T
NM_014795.4:c.904C>TMANE SELECT
NP_001165124.1:p.Arg278Ter
NP_055610.1:p.Arg302Ter
NC_000002.11:g.145158778G>A
NM_014795.3:c.904C>T
p.Arg302*
p.Arg302X

Protein change:

R278*

Links:

dbSNP: rs587784571

NCBI 1000 Genomes Browser:

rs587784571

Molecular consequence:

NM_001171653.2:c.832C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_014795.4:c.904C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000209418	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 15, 2017)	germline	clinical testing	Citation Link,
SCV000218433	Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	no assertion criteria provided	Pathogenic (Jan 30, 2015)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000209418

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jun 15, 2017)

germline

clinical testing

Citation Link,

SCV000218433

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

no assertion criteria provided

Pathogenic
(Jan 30, 2015)

germline

clinical testing

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000209418.11

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

Description

The R302X variant in the ZEB2 gene has been reported previously in a few unrelated individuals with clinical features of Mowat-Wilson syndrome (Ishihara et al., 2004; Saunders et al., 2009; Jiang et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R302X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret R302X as a pathogenic variant.

#	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

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000218433.1

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

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

Last Updated: Mar 30, 2024

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