NM_025132.4(WDR19):c.2715G>A (p.Lys905=) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: May 18, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000271288.3

Allele description [Variation Report for NM_025132.4(WDR19):c.2715G>A (p.Lys905=)]

NM_025132.4(WDR19):c.2715G>A (p.Lys905=)

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.2715G>A (p.Lys905=)
HGVS:
  • NC_000004.12:g.39245438G>A
  • NG_031813.1:g.68035G>A
  • NM_001317924.2:c.2235G>A
  • NM_025132.4:c.2715G>AMANE SELECT
  • NP_001304853.1:p.Lys745=
  • NP_079408.3:p.Lys905=
  • NC_000004.11:g.39247058G>A
  • NM_025132.3:c.2715G>A
  • p.Lys905Lys
Links:
dbSNP: rs200339331
NCBI 1000 Genomes Browser:
rs200339331
Molecular consequence:
  • NM_001317924.2:c.2235G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_025132.4:c.2715G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000340213EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 22, 2016)
germlineclinical testing

Citation Link,

SCV000884904ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely benign
(May 18, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000340213.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000884904.1

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

Description

The WDR19 c.2715G>A; p.Lys905Lys variant (rs200339331), to our knowledge, is not described in the medical literature but is reported as a variant of uncertain significance in ClinVar (Variation ID: 286679) and observed in the African population at an overall frequency of 0.34% (81/23972 alleles) in the Genome Aggregation Database. This is a synonymous variant at a nucleotide that is not conserved, and computational algorithms (Alamut v.2.11) predict no impact on splicing. Based on available information, this variant is considered likely benign.

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

Last Updated: Jun 14, 2021

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