NM_014795.4(ZEB2):c.2357dup (p.Leu786fs) AND Mowat-Wilson syndrome

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Oct 20, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002465387.2

Allele description [Variation Report for NM_014795.4(ZEB2):c.2357dup (p.Leu786fs)]

NM_014795.4(ZEB2):c.2357dup (p.Leu786fs)

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.2357dup (p.Leu786fs)

HGVS:

NC_000002.12:g.144398831dup
NG_016431.1:g.126562dup
NM_001171653.2:c.2285dup
NM_014795.4:c.2357dupMANE SELECT
NP_001165124.1:p.Leu762fs
NP_055610.1:p.Leu786fs
NC_000002.11:g.145156398dup

Protein change:

L762fs

Molecular consequence:

NM_001171653.2:c.2285dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014795.4:c.2357dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

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
SCV002760053	Laboratory of Medical Genetics, University of Torino - NeuroWES	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 29, 2022)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV004231881	Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 20, 2023)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002760053

Laboratory of Medical Genetics, University of Torino - NeuroWES

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 29, 2022)

germline

research

PubMed (1)
[See all records that cite this PMID]

SCV004231881

Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 20, 2023)

de novo

clinical testing

PubMed (1)
[See all records that cite this PMID]

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	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Laboratory of Medical Genetics, University of Torino - NeuroWES, SCV002760053.1

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

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

From Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, SCV004231881.1

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

Description

Heterozygous variant associated with Mowat-Wilson syndrome in at least 1 individual. ACMG/AMP criteria PVS1, PS2, PM2

#	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: Feb 4, 2024

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