NM_014795.4(ZEB2):c.3533del (p.Thr1178fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 16, 2013
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:: RCV000154151.5

Allele description [Variation Report for NM_014795.4(ZEB2):c.3533del (p.Thr1178fs)]

NM_014795.4(ZEB2):c.3533del (p.Thr1178fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

2q22.3

Genomic location:

Preferred name:

NM_014795.4(ZEB2):c.3533del (p.Thr1178fs)

HGVS:

NC_000002.12:g.144389563del
NG_016431.1:g.135829del
NM_001171653.2:c.3461del
NM_014795.4:c.3533delMANE SELECT
NP_001165124.1:p.Thr1154fs
NP_055610.1:p.Thr1178fs
NC_000002.11:g.145147130del

Protein change:

T1154fs

Links:

dbSNP: rs727504223

NCBI 1000 Genomes Browser:

rs727504223

Molecular consequence:

NM_001171653.2:c.3461del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014795.4:c.3533del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV000203817	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (May 16, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000203817

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(May 16, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000203817.4

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

Last Updated: Apr 1, 2023

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