NM_014795.4(ZEB2):c.2398dup (p.Ser800fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 30, 2015
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:: RCV000167552.1

Allele description [Variation Report for NM_014795.4(ZEB2):c.2398dup (p.Ser800fs)]

NM_014795.4(ZEB2):c.2398dup (p.Ser800fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

2q22.3

Genomic location:

Preferred name:

NM_014795.4(ZEB2):c.2398dup (p.Ser800fs)

HGVS:

NC_000002.12:g.144398790dup
NG_016431.1:g.126603dup
NM_001171653.2:c.2326dup
NM_014795.4:c.2398dupMANE SELECT
NP_001165124.1:p.Ser776fs
NP_055610.1:p.Ser800fs
NC_000002.11:g.145156357dup
NM_014795.3:c.2398dupT
p.Ser800Phefs*10

Protein change:

S776fs

Links:

dbSNP: rs786203990

NCBI 1000 Genomes Browser:

rs786203990

Molecular consequence:

NM_001171653.2:c.2326dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014795.4:c.2398dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000218431	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

SCV000218431

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

Details of each submission

From Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, SCV000218431.1

#	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: Apr 23, 2022

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