NM_024426.6(WT1):c.151del (p.Ala51fs) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 23, 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:: RCV000255852.3

Allele description [Variation Report for NM_024426.6(WT1):c.151del (p.Ala51fs)]

NM_024426.6(WT1):c.151del (p.Ala51fs)

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.151del (p.Ala51fs)

HGVS:

NC_000011.10:g.32435210del
NG_009272.1:g.5332del
NG_050766.1:g.4463del
NM_000378.6:c.151del
NM_024424.5:c.151del
NM_024426.6:c.151delMANE SELECT
NP_000369.4:p.Ala51fs
NP_077742.3:p.Ala51fs
NP_077744.4:p.Ala51fs
LRG_525:g.5332del
NC_000011.9:g.32456756del
NM_000378.4:c.136delG
NM_024426.4:c.136delG
NR_160306.1:n.330del

Protein change:

A51fs

Links:

dbSNP: rs776155094

NCBI 1000 Genomes Browser:

rs776155094

Molecular consequence:

NM_000378.6:c.151del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024424.5:c.151del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_024426.6:c.151del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_160306.1:n.330del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000322013	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 23, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000322013

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 23, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000322013.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Nonsense variant predicted to result in protein truncation; however a downstream in-frame ATG could serve as an alternate initiator codon which may result in a smaller, yet still functional, protein (Bruenig et al., 1996; Scharnhorst et al., 1999; Yang et al., 2007).; Not observed at significant frequency in large population cohorts (gnomAD); Observed in individuals with pancreatic cancer and pediatric glioma (Skaro et al., 2019; Muskens et al., 2020); Also known as c.151del/p.(A51Pfs*31); This variant is associated with the following publications: (PMID: 26633542, 30665703, 31970404, 30716324, 8621495, 10438524, 17361230)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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