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NM_024426.6(WT1):c.514del (p.Gln172fs) AND Wilms tumor 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 11, 2023
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:
RCV002266533.2

Allele description [Variation Report for NM_024426.6(WT1):c.514del (p.Gln172fs)]

NM_024426.6(WT1):c.514del (p.Gln172fs)

Genes:
WT1:WT1 transcription factor [Gene - OMIM - HGNC]
LOC107982234:WT1/WT1-AS bi-directional promoter region [Gene]
Variant type:
Deletion
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_024426.6(WT1):c.514del (p.Gln172fs)
HGVS:
  • NC_000011.10:g.32434848del
  • NG_009272.1:g.5695del
  • NG_050766.1:g.4101del
  • NM_000378.6:c.514del
  • NM_024424.5:c.514del
  • NM_024426.6:c.514delMANE SELECT
  • NP_000369.4:p.Gln172fs
  • NP_077742.3:p.Gln172fs
  • NP_077744.4:p.Gln172fs
  • LRG_525:g.5695del
  • NC_000011.9:g.32456394del
  • NM_024426.4:c.499delC
  • NM_024426.6:c.514delCMANE SELECT
  • NR_160306.1:n.693del
Protein change:
Q172fs
Links:
dbSNP: rs2133102575
NCBI 1000 Genomes Browser:
rs2133102575
Molecular consequence:
  • NM_000378.6:c.514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024424.5:c.514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_024426.6:c.514del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_160306.1:n.693del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Wilms tumor 1 (WT1)
Synonyms:
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
SCV002547568Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Pathogenic
(Apr 11, 2023)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients.

Segers H, Kersseboom R, Alders M, Pieters R, Wagner A, van den Heuvel-Eibrink MM.

Eur J Cancer. 2012 Nov;48(17):3249-56. doi: 10.1016/j.ejca.2012.06.008. Epub 2012 Jul 14.

PubMed [citation]
PMID:
22796116

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002547568.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: WT1 c.514delC (p.Gln172SerfsX119) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 244686 control chromosomes. c.514delC has been reported in the literature in individuals affected with Wilms Tumor, Type 1. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Jun 9, 2024