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NM_014795.4(ZEB2):c.3210C>A (p.Tyr1070Ter) AND Mowat-Wilson syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 18, 2023
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:
RCV003613093.2

Allele description [Variation Report for NM_014795.4(ZEB2):c.3210C>A (p.Tyr1070Ter)]

NM_014795.4(ZEB2):c.3210C>A (p.Tyr1070Ter)

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.3210C>A (p.Tyr1070Ter)
HGVS:
  • NC_000002.12:g.144389886G>T
  • NG_016431.1:g.135506C>A
  • NM_001171653.2:c.3138C>A
  • NM_014795.4:c.3210C>AMANE SELECT
  • NP_001165124.1:p.Tyr1046Ter
  • NP_055610.1:p.Tyr1070Ter
  • NC_000002.11:g.145147453G>T
Protein change:
Y1046*
Molecular consequence:
  • NM_001171653.2:c.3138C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014795.4:c.3210C>A - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004434084Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 18, 2023) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Heinritz W, Zweier C, Froster UG, Strenge S, Kujat A, Syrbe S, Rauch A, Schuster V.

Am J Med Genet A. 2006 Jun 1;140(11):1223-7.

PubMed [citation]
PMID:
16688751

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004434084.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This sequence change creates a premature translational stop signal (p.Tyr1070*) in the ZEB2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 145 amino acid(s) of the ZEB2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ZEB2-related conditions. This variant disrupts a region of the ZEB2 protein in which other variant(s) (p.Gln1119Arg) have been determined to be pathogenic (PMID: 16688751). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024