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NM_014795.4(ZEB2):c.2329C>T (p.His777Tyr) AND Mowat-Wilson syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 2014
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:
RCV000147995.6

Allele description [Variation Report for NM_014795.4(ZEB2):c.2329C>T (p.His777Tyr)]

NM_014795.4(ZEB2):c.2329C>T (p.His777Tyr)

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.2329C>T (p.His777Tyr)
HGVS:
  • NC_000002.12:g.144398858G>A
  • NG_016431.1:g.126534C>T
  • NM_001171653.2:c.2257C>T
  • NM_014795.4:c.2329C>TMANE SELECT
  • NP_001165124.1:p.His753Tyr
  • NP_055610.1:p.His777Tyr
  • NC_000002.11:g.145156425G>A
  • NM_014795.3:c.2329C>T
Protein change:
H753Y
Links:
dbSNP: rs587784564
NCBI 1000 Genomes Browser:
rs587784564
Molecular consequence:
  • NM_001171653.2:c.2257C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014795.4:c.2329C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000195492Genetic Services Laboratory, University of Chicago
criteria provided, single submitter

(ACMG Guidelines, 2007)		Uncertain significance
(Jan 23, 2014) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]
PMID:
18414213

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000195492.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 9, 2023