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NM_016373.4(WWOX):c.102C>A (p.Tyr34Ter) AND Abnormality of the nervous system

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 10, 2021
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:
RCV001814482.1

Allele description [Variation Report for NM_016373.4(WWOX):c.102C>A (p.Tyr34Ter)]

NM_016373.4(WWOX):c.102C>A (p.Tyr34Ter)

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.102C>A (p.Tyr34Ter)
HGVS:
  • NC_000016.10:g.78099880C>A
  • NG_011698.1:g.5227C>A
  • NM_001291997.2:c.-173C>A
  • NM_016373.4:c.102C>AMANE SELECT
  • NM_130791.5:c.102C>A
  • NP_057457.1:p.Tyr34Ter
  • NP_570607.1:p.Tyr34Ter
  • NC_000016.9:g.78133777C>A
  • NR_120435.2:n.227C>A
  • NR_120436.3:n.227C>A
Protein change:
Y34*
Links:
dbSNP: rs1295198168
NCBI 1000 Genomes Browser:
rs1295198168
Molecular consequence:
  • NM_001291997.2:c.-173C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_120435.2:n.227C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_120436.3:n.227C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_016373.4:c.102C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_130791.5:c.102C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Abnormality of the nervous system
Synonyms:
Congenital nervous system disorder
Identifiers:
MONDO: MONDO:0002320; MedGen: C0497552; Human Phenotype Ontology: HP:0000707

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001755453Kariminejad - Najmabadi Pathology & Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 10, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot 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 Kariminejad - Najmabadi Pathology & Genetics Center, SCV001755453.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023