NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 23, 2015
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:: RCV000480798.1

Allele description

NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu)

Genes:

MAF:MAF bZIP transcription factor [Gene - OMIM - HGNC]
WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q23.2

Genomic location:

Preferred name:

NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu)

HGVS:

NC_000016.10:g.79211666G>A
NG_011698.1:g.1117013G>A
NM_001291997.2:c.776G>A
NM_016373.4:c.1115G>AMANE SELECT
NP_001278926.1:p.Gly259Glu
NP_057457.1:p.Gly372Glu
NC_000016.9:g.79245563G>A
NM_016373.2:c.1115G>A
NM_016373.3:c.1115G>A

Protein change:

G259E

Links:

dbSNP: rs1064793798

NCBI 1000 Genomes Browser:

rs1064793798

Molecular consequence:

NM_001291997.2:c.776G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_016373.4:c.1115G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000567062	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jun 23, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000567062

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jun 23, 2015)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000567062.3

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

Description

The G372E variant in the WWOX gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. The G372E substitution was not observed in approximately6100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common variant in these populations. The G372E variant is a non-conservative aminoacid substitution, which is likely to impact secondary protein structure as these residues differ in polarity,charge, size and/or other properties. This substitution occurs at a position that is conserved across species.A missense variant in the same residue (G372R) has been reported in the homozygous state in twosiblings with cerebellar ataxia, epilepsy and intellectual disability (Mallaret et al., 2014), supporting thefunctional importance of this region of the protein. We interpret G372E as a pathogenic variant.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 29, 2021

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