NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 10, 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:: RCV003443120.1

Allele description [Variation Report for NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)]

NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)

Genes:

WT1:WT1 transcription factor [Gene - OMIM - HGNC]
LOC107982234:WT1/WT1-AS bi-directional promoter region [Gene]

Variant type:

Indel

Cytogenetic location:

11p13

Genomic location:

Preferred name:

NM_024426.6(WT1):c.16_17delinsGG (p.Leu6Gly)

HGVS:

NC_000011.10:g.32435344_32435345delinsCC
NG_009272.1:g.5197_5198delinsGG
NG_050766.2:g.5276_5277delinsCC
NM_000378.6:c.16_17delinsGG
NM_001407044.1:c.16_17delCTinsGG
NM_001407045.1:c.16_17delCTinsGG
NM_001407046.1:c.16_17delCTinsGG
NM_001407047.1:c.16_17delCTinsGG
NM_001407048.1:c.16_17delCTinsGG
NM_001407049.1:c.16_17delCTinsGG
NM_001407050.1:c.16_17delCTinsGG
NM_024424.5:c.16_17delinsGG
NM_024425.2:c.1_2delCTinsGG
NM_024426.4:c.1_2delinsGG
NM_024426.6:c.16_17delinsGGMANE SELECT
NP_000369.4:p.Leu6Gly
NP_001393973.1:p.Leu6Gly
NP_001393974.1:p.Leu6Gly
NP_001393975.1:p.Leu6Gly
NP_001393976.1:p.Leu6Gly
NP_001393977.1:p.Leu6Gly
NP_001393978.1:p.Leu6Gly
NP_001393979.1:p.Leu6Gly
NP_077742.3:p.Leu6Gly
NP_077743.2:p.Met1Gly
NP_077744.3:p.Met1Gly
NP_077744.4:p.Leu6Gly
LRG_525t1:c.1_2delCTinsGG
LRG_525:g.5197_5198delinsGG
LRG_525p1:p.Met1Gly
NC_000011.9:g.32456890_32456891delinsCC
NG_050766.1:g.4597_4598delinsCC
NM_024426.3:c.1_2delCTinsGG
NR_160306.1:n.195_196delinsGG
NR_176266.1:n.195_196delCTinsGG

Protein change:

L6G

Molecular consequence:

NM_000378.6:c.16_17delinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407044.1:c.16_17delCTinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407045.1:c.16_17delCTinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407046.1:c.16_17delCTinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407047.1:c.16_17delCTinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407048.1:c.16_17delCTinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407049.1:c.16_17delCTinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_001407050.1:c.16_17delCTinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_024424.5:c.16_17delinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_024425.2:c.1_2delCTinsGG - missense variant - [Sequence Ontology: SO:0001583]
NM_024426.6:c.16_17delinsGG - missense variant - [Sequence Ontology: SO:0001583]
NR_160306.1:n.195_196delinsGG - 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
SCV004170377	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Oct 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004170377

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Oct 10, 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, SCV004170377.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); Variant results in loss of initiation codon; however a downstream in-frame ATG could serve as an alternate initiator codon which may result in a smaller, yet still functional, protein (Bruening et al., 1996; Scharnhorst et al., 1999; Yang et al., 2007).; This variant is associated with the following publications: (PMID: 33087929, 17361230, 8621495, 10438524)

#	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: Sep 29, 2024

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