NM_014795.4(ZEB2):c.2813C>G (p.Thr938Ser) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 31, 2019
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:: RCV002441725.2

Allele description [Variation Report for NM_014795.4(ZEB2):c.2813C>G (p.Thr938Ser)]

NM_014795.4(ZEB2):c.2813C>G (p.Thr938Ser)

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.2813C>G (p.Thr938Ser)

HGVS:

NC_000002.12:g.144398374G>C
NG_016431.1:g.127018C>G
NM_001171653.2:c.2741C>G
NM_014795.4:c.2813C>GMANE SELECT
NP_001165124.1:p.Thr914Ser
NP_055610.1:p.Thr938Ser
NC_000002.11:g.145155941G>C
NM_014795.3:c.2813C>G

Protein change:

T914S

Molecular consequence:

NM_001171653.2:c.2741C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_014795.4:c.2813C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Homo sapiens Zn regulated GTPase metalloprotein activator 1E (ZNG1E), transcript...
Homo sapiens Zn regulated GTPase metalloprotein activator 1E (ZNG1E), transcript variant 1, mRNA
gi|1934152573|ref|NM_001024916.4|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002749461	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 31, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002749461

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 31, 2019)

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 Ambry Genetics, SCV002749461.2

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

Description

The p.T938S variant (also known as c.2813C>G), located in coding exon 7 of the ZEB2 gene, results from a C to G substitution at nucleotide position 2813. The threonine at codon 938 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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: Sep 29, 2024

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