NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter) AND Mowat-Wilson syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 13, 2019
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:: RCV000824675.2

Allele description [Variation Report for NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter)]

NM_014795.4(ZEB2):c.703G>T (p.Glu235Ter)

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.703G>T (p.Glu235Ter)

HGVS:

NC_000002.12:g.144404020C>A
NG_016431.1:g.121372G>T
NM_001171653.2:c.631G>T
NM_014795.4:c.703G>TMANE SELECT
NP_001165124.1:p.Glu211Ter
NP_055610.1:p.Glu235Ter
NC_000002.11:g.145161587C>A
NM_014795.3:c.703G>T

Protein change:

E211*

Links:

dbSNP: rs1553962069

NCBI 1000 Genomes Browser:

rs1553962069

Molecular consequence:

NM_001171653.2:c.631G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_014795.4:c.703G>T - nonsense - [Sequence Ontology: SO:0001587]

Functional consequence:

termination codon change [Variation Ontology: 0309]

Condition(s)

Name:: Mowat-Wilson syndrome (MOWS)
Synonyms:: Mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease; Hirschsprung disease mental retardation syndrome
Identifiers:: MONDO: MONDO:0009341; MedGen: C1856113; Orphanet: 2152; OMIM: 235730

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000882826	Center of Medical Genetics and Primary Health Care	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 13, 2019)	de novo	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000882826

Center of Medical Genetics and Primary Health Care

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 13, 2019)

de novo

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Center of Medical Genetics and Primary Health Care, SCV000882826.2

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

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

Last Updated: Apr 23, 2022

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