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NM_014795.4(ZEB2):c.1467T>A (p.Tyr489Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 17, 2021
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:
RCV000522754.3

Allele description [Variation Report for NM_014795.4(ZEB2):c.1467T>A (p.Tyr489Ter)]

NM_014795.4(ZEB2):c.1467T>A (p.Tyr489Ter)

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.1467T>A (p.Tyr489Ter)
HGVS:
  • NC_000002.12:g.144399720A>T
  • NG_016431.1:g.125672T>A
  • NM_001171653.2:c.1395T>A
  • NM_014795.4:c.1467T>AMANE SELECT
  • NP_001165124.1:p.Tyr465Ter
  • NP_055610.1:p.Tyr489Ter
  • NC_000002.11:g.145157287A>T
  • NM_014795.3:c.1467T>A
Protein change:
Y465*
Links:
dbSNP: rs1553961705
NCBI 1000 Genomes Browser:
rs1553961705
Molecular consequence:
  • NM_001171653.2:c.1395T>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014795.4:c.1467T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000620145GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Mar 17, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000620145.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 26809768)

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

Last Updated: Apr 23, 2022