NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter) AND Mowat-Wilson syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002246822.1

Allele description [Variation Report for NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter)]

NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

2q22.3

Genomic location:

Preferred name:

NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter)

HGVS:

NC_000002.12:g.144389887_144389888insTC
NG_016431.1:g.135504_135505insGA
NM_001171653.2:c.3136_3137insGA
NM_014795.4:c.3208_3209insGAMANE SELECT
NP_001165124.1:p.Tyr1046Ter
NP_055610.1:p.Tyr1070Ter
NC_000002.11:g.145147454_145147455insTC

Protein change:

Y1046*

Links:

dbSNP: rs2149872634

NCBI 1000 Genomes Browser:

rs2149872634

Molecular consequence:

NM_001171653.2:c.3136_3137insGA - nonsense - [Sequence Ontology: SO:0001587]
NM_014795.4:c.3208_3209insGA - 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
SCV002519981	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002519981

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002519981.1

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

Last Updated: Dec 24, 2023

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