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NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup) AND Nephroblastoma

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2016
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:
RCV000761054.2

Allele description [Variation Report for NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)]

NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)

Genes:
WT1:WT1 transcription factor [Gene - OMIM - HGNC]
LOC107982234:WT1/WT1-AS bi-directional promoter region [Gene]
Variant type:
Microsatellite
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_024426.6(WT1):c.411GCC[5] (p.Pro141dup)
HGVS:
  • NC_000011.10:g.32434941CGG[5]
  • NG_009272.1:g.5592GCC[5]
  • NG_050766.1:g.4194CGG[5]
  • NM_000378.6:c.411GCC[5]
  • NM_024424.5:c.411GCC[5]
  • NM_024426.6:c.411GCC[5]MANE SELECT
  • NP_000369.4:p.Pro141dup
  • NP_077742.3:p.Pro141dup
  • NP_077744.4:p.Pro141dup
  • LRG_525:g.5592GCC[5]
  • NC_000011.9:g.32456484_32456485insGGC
  • NC_000011.9:g.32456487CGG[5]
  • NM_000378.4:c.405_407dup
  • NM_024426.3:c.405_407dupGCC
  • NM_024426.4:c.405_407dupGCC
  • NR_160306.1:n.590GCC[5]
Links:
dbSNP: rs760304811
NCBI 1000 Genomes Browser:
rs760304811
Molecular consequence:
  • NM_000378.6:c.411GCC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_024424.5:c.411GCC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_024426.6:c.411GCC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NR_160306.1:n.590GCC[5] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Nephroblastoma
Synonyms:
Wilms tumor; Wilms' tumor
Identifiers:
MONDO: MONDO:0006058; MeSH: D009396; MedGen: C0027708; Human Phenotype Ontology: HP:0002667

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000890969St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 27, 2016) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV000890969.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024