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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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002519981Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)
Pathogenic
(May 4, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mendelics, SCV002519981.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023