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NM_014795.4(ZEB2):c.2425G>T (p.Glu809Ter) AND Mowat-Wilson syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 22, 2018
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:
RCV001249622.5

Allele description [Variation Report for NM_014795.4(ZEB2):c.2425G>T (p.Glu809Ter)]

NM_014795.4(ZEB2):c.2425G>T (p.Glu809Ter)

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.2425G>T (p.Glu809Ter)
HGVS:
  • NC_000002.12:g.144398762C>A
  • NG_016431.1:g.126630G>T
  • NM_001171653.2:c.2353G>T
  • NM_014795.4:c.2425G>TMANE SELECT
  • NP_001165124.1:p.Glu785Ter
  • NP_055610.1:p.Glu809Ter
  • NC_000002.11:g.145156329C>A
  • NM_014795.3:c.2425G>T
Protein change:
E785*
Links:
dbSNP: rs1703265228
NCBI 1000 Genomes Browser:
rs1703265228
Molecular consequence:
  • NM_001171653.2:c.2353G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014795.4:c.2425G>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423695Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 22, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

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

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 Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital, SCV001423695.1

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

Description

[ACMG/AMP: PVS1, PS2, PM2, PP3] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2], is predicted to be damaging by multiple functional prediction tools [PP3].

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

Last Updated: Jan 7, 2023