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NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 2, 2023
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:
RCV003235606.1

Allele description [Variation Report for NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter)]

NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter)

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.1165C>T (p.Gln389Ter)
HGVS:
  • NC_000016.10:g.79211716C>T
  • NG_011698.1:g.1117063C>T
  • NM_001291997.2:c.826C>T
  • NM_016373.3:c.1165C>T
  • NM_016373.4:c.1165C>TMANE SELECT
  • NP_001278926.1:p.Gln276Ter
  • NP_057457.1:p.Gln389Ter
  • NC_000016.9:g.79245613C>T
  • NM_016373.2:c.1165C>T
Protein change:
Q276*
Links:
dbSNP: rs1484856529
NCBI 1000 Genomes Browser:
rs1484856529
Molecular consequence:
  • NM_001291997.2:c.826C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_016373.4:c.1165C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003933950Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Uncertain significance
(May 2, 2023) 		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, SCV003933950.1

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

Description

Variant summary: WWOX c.1165C>T (p.Gln389X) results in a premature termination codon in the last exon and is predicted to cause a truncation of the encoded protein or absence of the protein. The variant was absent in 249536 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1165C>T in individuals affected with Early Infantile Epileptic Encephalopathy, Autosomal Recessive and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as likely pathogenic, and as uncertain significance. 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: Sep 29, 2024