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NM_025132.4(WDR19):c.2363+1G>A AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 20, 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:
RCV000320568.2

Allele description [Variation Report for NM_025132.4(WDR19):c.2363+1G>A]

NM_025132.4(WDR19):c.2363+1G>A

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.2363+1G>A
HGVS:
  • NC_000004.12:g.39234876G>A
  • NG_031813.1:g.57473G>A
  • NM_001317924.2:c.1883+1G>A
  • NM_025132.4:c.2363+1G>AMANE SELECT
  • NC_000004.11:g.39236496G>A
  • NM_025132.3:c.2363+1G>A
Links:
dbSNP: rs886041912
NCBI 1000 Genomes Browser:
rs886041912
Molecular consequence:
  • NM_001317924.2:c.1883+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_025132.4:c.2363+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330712GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Dec 20, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000330712.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31589614)

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

Last Updated: Sep 29, 2024