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

Clinical significance:Benign (Last evaluated: May 30, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000250947.4

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
  • 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000314311PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Benigngermlineclinical testing

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

SCV001159614ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Mar 4, 2019)
germlineclinical testing

Citation Link,

SCV001370590Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Benign
(May 30, 2020)
germlineclinical testing

PubMed (12)
[See all records that cite these PMIDs]

Citation Link,

SCV001906192Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedBenigngermlineclinical testing

Summary from all submissions

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

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
See all PubMed Citations (13)

Details of each submission

From PreventionGenetics,PreventionGenetics, SCV000314311.1

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

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001159614.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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