NM_016373.4(WWOX):c.107+2_107+5del AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 1, 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:: RCV000585554.23

Allele description [Variation Report for NM_016373.4(WWOX):c.107+2_107+5del]

NM_016373.4(WWOX):c.107+2_107+5del

Gene:

WWOX:WW domain containing oxidoreductase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

16q23.1

Genomic location:

Preferred name:

NM_016373.4(WWOX):c.107+2_107+5del

HGVS:

NC_000016.10:g.78099884_78099887del
NC_000016.10:g.78099887_78099890del
NG_011698.1:g.5234_5237del
NM_001291997.2:c.-168+2_-168+5del
NM_016373.4:c.107+2_107+5delMANE SELECT
NM_130791.5:c.107+2_107+5del
NC_000016.9:g.78133784_78133787del
NM_016373.3:c.106_107+2del
NR_120435.2:n.234_237del
NR_120436.3:n.234_237del

Links:

dbSNP: rs1555532979

NCBI 1000 Genomes Browser:

rs1555532979

Molecular consequence:

NR_120435.2:n.234_237del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_120436.3:n.234_237del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001291997.2:c.-168+2_-168+5del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_016373.4:c.107+2_107+5del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_130791.5:c.107+2_107+5del - splice donor variant - [Sequence Ontology: SO:0001575]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000692868	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Jan 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000692868

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Jan 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000692868.30

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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