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NM_016373.4(WWOX):c.49G>A (p.Glu17Lys) AND Developmental and epileptic encephalopathy, 28

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 12, 2022
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:
RCV001823026.1

Allele description [Variation Report for NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)]

NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)

Gene:
WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q23.1
Genomic location:
Preferred name:
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)
HGVS:
  • NC_000016.10:g.78099827G>A
  • NG_011698.1:g.5174G>A
  • NM_001291997.2:c.-226G>A
  • NM_016373.4:c.49G>AMANE SELECT
  • NM_130791.5:c.49G>A
  • NP_057457.1:p.Glu17Lys
  • NP_570607.1:p.Glu17Lys
  • NC_000016.9:g.78133724G>A
  • NR_120435.2:n.174G>A
  • NR_120436.3:n.174G>A
Protein change:
E17K
Links:
dbSNP: rs780345312
NCBI 1000 Genomes Browser:
rs780345312
Molecular consequence:
  • NM_001291997.2:c.-226G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_016373.4:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_130791.5:c.49G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_120435.2:n.174G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_120436.3:n.174G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Developmental and epileptic encephalopathy, 28 (DEE28)
Synonyms:
Epileptic encephalopathy, early infantile, 28
Identifiers:
MONDO: MONDO:0014533; MedGen: C4015519; Orphanet: 442835; OMIM: 616211

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002072538Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 12, 2022) 		maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV002072538.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was identified as compound heterozygous with NM_016373.4:c.(516+1_517-1)_(605+1_606-1)del._x000D_ Criteria applied: PM3_VSTR, PM2_SUP, PP3

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

Last Updated: Nov 3, 2024