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NM_016373.4(WWOX):c.107+1G>A AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 1, 2019
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:
RCV002252255.2

Allele description [Variation Report for NM_016373.4(WWOX):c.107+1G>A]

NM_016373.4(WWOX):c.107+1G>A

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.107+1G>A
HGVS:
  • NC_000016.10:g.78099886G>A
  • NG_011698.1:g.5233G>A
  • NG_134376.1:g.99G>A
  • NM_001291997.2:c.-168+1G>A
  • NM_016373.4:c.107+1G>AMANE SELECT
  • NM_130791.5:c.107+1G>A
  • NC_000016.9:g.78133783G>A
  • NR_120435.2:n.233G>A
  • NR_120436.3:n.233G>A
Links:
dbSNP: rs1300924648
NCBI 1000 Genomes Browser:
rs1300924648
Molecular consequence:
  • NR_120435.2:n.233G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_120436.3:n.233G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001291997.2:c.-168+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_016373.4:c.107+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_130791.5:c.107+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002523330Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 1, 2019) 		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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523330.1

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

Description

ACMG classification criteria: PVS1, PM2

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

Last Updated: Nov 3, 2024