NM_032856.5(WDR73):c.706_719dup (p.Ser240fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2020
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:: RCV002275179.14

Allele description [Variation Report for NM_032856.5(WDR73):c.706_719dup (p.Ser240fs)]

NM_032856.5(WDR73):c.706_719dup (p.Ser240fs)

Gene:

WDR73:WD repeat domain 73 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

15q25.2

Genomic location:

Preferred name:

NM_032856.5(WDR73):c.706_719dup (p.Ser240fs)

HGVS:

NC_000015.10:g.84645639_84645652dup
NG_042034.1:g.13696_13709dup
NM_032856.5:c.706_719dupMANE SELECT
NP_116245.2:p.Ser240fs
NC_000015.9:g.85188870_85188883dup
NR_130944.2:n.1249_1262dup
NR_130945.2:n.828_841dup
NR_130946.2:n.722_735dup
NR_130947.2:n.626_639dup

Protein change:

S240fs

Links:

dbSNP: rs1596050297

NCBI 1000 Genomes Browser:

rs1596050297

Molecular consequence:

NM_032856.5:c.706_719dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_130944.2:n.1249_1262dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_130945.2:n.828_841dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_130946.2:n.722_735dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_130947.2:n.626_639dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV002563271	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Jan 1, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002563271

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

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

Pathogenic
(Jan 1, 2020)

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, SCV002563271.14

#	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: Aug 4, 2024

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