NM_024426.6(WT1):c.193G>A (p.Gly65Arg) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 9, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV001563568.3

Allele description [Variation Report for NM_024426.6(WT1):c.193G>A (p.Gly65Arg)]

NM_024426.6(WT1):c.193G>A (p.Gly65Arg)

Genes:
WT1:WT1 transcription factor [Gene - OMIM - HGNC]
LOC107982234:WT1/WT1-AS bi-directional promoter region [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)
HGVS:
  • NC_000011.10:g.32435168C>T
  • NG_009272.1:g.5374G>A
  • NG_050766.1:g.4421C>T
  • NM_000378.6:c.193G>A
  • NM_024424.5:c.193G>A
  • NM_024426.6:c.193G>AMANE SELECT
  • NP_000369.4:p.Gly65Arg
  • NP_077742.3:p.Gly65Arg
  • NP_077744.4:p.Gly65Arg
  • LRG_525:g.5374G>A
  • NC_000011.9:g.32456714C>T
  • NM_024426.4:c.178G>A
  • NR_160306.1:n.372G>A
Protein change:
G65R
Links:
dbSNP: rs374404615
NCBI 1000 Genomes Browser:
rs374404615
Molecular consequence:
  • NM_000378.6:c.193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024424.5:c.193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024426.6:c.193G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160306.1:n.372G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001786538GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 9, 2021)
germlineclinical testing

Citation Link,

SCV001928534Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

SCV001965702Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001786538.1

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign in individuals with WT1-related disease to our knowledge; This variant is associated with the following publications: (PMID: 28873162, 29058119)

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001928534.1

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001965702.1

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

Last Updated: Nov 6, 2021

Support Center