NM_024426.6(WT1):c.70C>T (p.Arg24Cys) AND Wilms tumor 1

Clinical significance:Uncertain significance (Last evaluated: May 27, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001526809.1

Allele description [Variation Report for NM_024426.6(WT1):c.70C>T (p.Arg24Cys)]

NM_024426.6(WT1):c.70C>T (p.Arg24Cys)

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.70C>T (p.Arg24Cys)
HGVS:
  • NC_000011.10:g.32435291G>A
  • NG_009272.1:g.5251C>T
  • NG_050766.1:g.4544G>A
  • NM_000378.6:c.70C>T
  • NM_024424.5:c.70C>T
  • NM_024426.6:c.70C>TMANE SELECT
  • NP_000369.4:p.Arg24Cys
  • NP_077742.3:p.Arg24Cys
  • NP_077744.4:p.Arg24Cys
  • LRG_525:g.5251C>T
  • NC_000011.9:g.32456837G>A
  • NM_000378.4:c.55C>T
  • NM_024426.4:c.55C>T
  • NR_160306.1:n.249C>T
Protein change:
R24C
Links:
dbSNP: rs878855086
NCBI 1000 Genomes Browser:
rs878855086
Molecular consequence:
  • NM_000378.6:c.70C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024424.5:c.70C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024426.6:c.70C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_160306.1:n.249C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Wilms tumor 1 (WT1)
Synonyms:
Bilateral Wilms tumor; Familial Wilms tumor 2; Wilms tumor, somatic
Identifiers:
MONDO: MONDO:0008679; MedGen: CN033288; Orphanet: 654; OMIM: 194070

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001737448St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospitalcriteria provided, single submitter
Uncertain significance
(May 27, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital, SCV001737448.2

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

Description

The WT1 c.55C>T (p.Arg19Cys) missense change is absent in gnomAD v2.1.1 (PM2_Supporting; https://gnomad.broadinstitute.org/). Four of six in silico tools predict a benign effect of this variant on protein function (BP4), but to our knowledge these predictions have not been confirmed by functional assays. To our knowledge, this variant has not been reported in individuals with WT1-related conditions. In summary, this variant meets criteria to be classified as of uncertain significance based on the ACMG/AMP criteria: PM2_Supporting, BP4.

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

Last Updated: Oct 8, 2021

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