NM_014795.4(ZEB2):c.712G>T (p.Glu238Ter) AND Mowat-Wilson syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 2, 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:: RCV001958191.4

Allele description [Variation Report for NM_014795.4(ZEB2):c.712G>T (p.Glu238Ter)]

NM_014795.4(ZEB2):c.712G>T (p.Glu238Ter)

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.712G>T (p.Glu238Ter)

HGVS:

NC_000002.12:g.144404011C>A
NG_016431.1:g.121381G>T
NM_001171653.2:c.640G>T
NM_014795.4:c.712G>TMANE SELECT
NP_001165124.1:p.Glu214Ter
NP_055610.1:p.Glu238Ter
NC_000002.11:g.145161578C>A

Protein change:

E214*

Links:

dbSNP: rs2149879206

NCBI 1000 Genomes Browser:

rs2149879206

Molecular consequence:

NM_001171653.2:c.640G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_014795.4:c.712G>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002225471	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Dec 2, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 29159939, 16053902, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002225471

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Dec 2, 2021)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

Citations

PubMed

Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.

Xiao B, Qiu W, Ji X, Liu X, Huang Z, Liu H, Fan Y, Xu Y, Liu Y, Yie H, Wei W, Yan H, Gong Z, Shen L, Sun Y.

Am J Med Genet A. 2018 Jan;176(1):107-115. doi: 10.1002/ajmg.a.38542. Epub 2017 Nov 21.

PubMed [citation]

PMID:: 29159939

Clinical and mutational spectrum of Mowat-Wilson syndrome.

Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher RC, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, et al.

Eur J Med Genet. 2005 Apr-Jun;48(2):97-111. Epub 2005 Feb 25.

PubMed [citation]

PMID:: 16053902

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002225471.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant is also known as c.640G>T, Glu214*. This premature translational stop signal has been observed in individual(s) with clinical features of ZEB2-related conditions (PMID: 29159939). In at least one individual the variant was observed to be de novo. This sequence change creates a premature translational stop signal (p.Glu238*) in the ZEB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ZEB2 are known to be pathogenic (PMID: 16053902).

#	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: Sep 29, 2024

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