NM_024426.6(WT1):c.181C>A (p.Arg61=) AND not specified

Germline classification:: Benign (4 submissions)
Last evaluated:: Aug 19, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000250947.16

Allele description [Variation Report for NM_024426.6(WT1):c.181C>A (p.Arg61=)]

NM_024426.6(WT1):c.181C>A (p.Arg61=)

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.181C>A (p.Arg61=)

HGVS:

NC_000011.10:g.32435180G>T
NG_009272.1:g.5362C>A
NG_050766.1:g.4433G>T
NM_000378.6:c.181C>A
NM_024424.5:c.181C>A
NM_024426.6:c.181C>AMANE SELECT
NP_000369.4:p.Arg61=
NP_077742.3:p.Arg61=
NP_077744.4:p.Arg61=
LRG_525:g.5362C>A
NC_000011.9:g.32456726G>T
NM_024426.4:c.166C>A
NM_024426.5:c.181C>A
NR_160306.1:n.360C>A

Links:

dbSNP: rs2234581

NCBI 1000 Genomes Browser:

rs2234581

Molecular consequence:

NR_160306.1:n.360C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000378.6:c.181C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_024424.5:c.181C>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_024426.6:c.181C>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000314311	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001370590	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (May 30, 2020)	germline	clinical testing	PubMed (12) [See all records that cite these PMIDs] 19221039, 20435628, 20413658, 19171881, 20368469, 25110071, 25932436, 18559874, 19536888, 26725263, 19494353, 18591546 Citation Link,
SCV001906192	Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Benign	germline	clinical testing
SCV002072269	Genetic Services Laboratory, University of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Aug 19, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

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
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prognostic impact of WT1 mutations in cytogenetically normal acute myeloid leukemia: a study of the German-Austrian AML Study Group.

Gaidzik VI, Schlenk RF, Moschny S, Becker A, Bullinger L, Corbacioglu A, Krauter J, Schlegelberger B, Ganser A, Döhner H, Döhner K; German-Austrian AML Study Group..

Blood. 2009 May 7;113(19):4505-11. doi: 10.1182/blood-2008-10-183392. Epub 2009 Feb 12.

PubMed [citation]

PMID:: 19221039

Prognostic implications of mutations and expression of the Wilms tumor 1 (WT1) gene in adult acute T-lymphoblastic leukemia.

Heesch S, Goekbuget N, Stroux A, Tanchez JO, Schlee C, Burmeister T, Schwartz S, Blau O, Keilholz U, Busse A, Hoelzer D, Thiel E, Hofmann WK, Baldus CD.

Haematologica. 2010 Jun;95(6):942-9. doi: 10.3324/haematol.2009.016386. Epub 2010 Apr 30.

PubMed [citation]

PMID:: 20435628
PMCID:: PMC2878792

See all PubMed Citations (13)

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000314311.1

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

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001370590.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (12)

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

From Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute - VKGL Data-share Consensus, SCV001906192.1

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

#	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

From Genetic Services Laboratory, University of Chicago, SCV002072269.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 10, 2024

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