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NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 23, 2024
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:
RCV004782630.1

Allele description [Variation Report for NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly)]

NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly)

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.1172A>G (p.Glu391Gly)
HGVS:
  • NC_000016.10:g.79211723A>G
  • NG_011698.1:g.1117070A>G
  • NM_001291997.2:c.833A>G
  • NM_016373.4:c.1172A>GMANE SELECT
  • NP_001278926.1:p.Glu278Gly
  • NP_057457.1:p.Glu391Gly
  • NC_000016.9:g.79245620A>G
  • NM_016373.2:c.1172A>G
  • NM_016373.3:c.1172A>G
Protein change:
E278G
Links:
dbSNP: rs369959670
NCBI 1000 Genomes Browser:
rs369959670
Molecular consequence:
  • NM_001291997.2:c.833A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016373.4:c.1172A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005394810Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(Sep 23, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005394810.1

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

Description

Variant summary: WWOX c.1172A>G (p.Glu391Gly) results in a non-conservative amino acid change located in the WWOX, classical (c)-like SDR domain (IPR042732) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-05 in 249538 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in WWOX causing Autosomal Recessive Early Infantile Epileptic Encephalopathy, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1172A>G in individuals affected with Early Infantile Epileptic Encephalopathy and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 838781). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Nov 18, 2024