NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) AND WDR19-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 23, 2018
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:: RCV000779440.4

Allele description [Variation Report for NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)]

NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)

Gene:

WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p14

Genomic location:

Preferred name:

NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)

HGVS:

NC_000004.12:g.39205191T>A
NG_031813.1:g.27788T>A
NM_001317924.2:c.161T>A
NM_025132.4:c.641T>AMANE SELECT
NP_001304853.1:p.Leu54Ter
NP_079408.3:p.Leu214Ter
NC_000004.11:g.39206811T>A
NM_025132.3:c.641T>A

Protein change:

L214*

Links:

dbSNP: rs751290509

NCBI 1000 Genomes Browser:

rs751290509

Molecular consequence:

NM_001317924.2:c.161T>A - nonsense - [Sequence Ontology: SO:0001587]
NM_025132.4:c.641T>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: WDR19-related disorder
Synonyms:: WDR19-Related Disorders; WDR19-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000916060	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 09 May 2019)	Uncertain significance (Oct 23, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000916060

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)

Uncertain significance
(Oct 23, 2018)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000916060.1

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

Description

The WDR19 c.641T>A (p.Leu214Ter) variant is a stop-gained variant that is predicted to result in a premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The variant is reported at a frequency of 0.000034 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the potential impact of stop-gained variants, the p.Leu214Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for WDR19-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Oct 8, 2024

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