ClinVar Genomic variation as it relates to human health
NM_024426.6(WT1):c.181C>A (p.Arg61=)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_024426.6(WT1):c.181C>A (p.Arg61=)
Variation ID: 241476 Accession: VCV000241476.32
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 11p13 11: 32435180 (GRCh38) [ NCBI UCSC ] 11: 32456726 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Oct 2, 2016 Feb 28, 2024 Jan 31, 2024 - HGVS
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Nucleotide Protein Molecular
consequenceNM_024426.6:c.181C>A MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_077744.4:p.Arg61= synonymous NM_000378.6:c.181C>A NP_000369.4:p.Arg61= synonymous NM_024424.5:c.181C>A NP_077742.3:p.Arg61= synonymous NR_160306.1:n.360C>A non-coding transcript variant NC_000011.10:g.32435180G>T NC_000011.9:g.32456726G>T NG_009272.1:g.5362C>A NG_050766.1:g.4433G>T LRG_525:g.5362C>A - Protein change
- Other names
- -
- Canonical SPDI
- NC_000011.10:32435179:G:T
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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0.00260 (T)
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00019
1000 Genomes Project 0.00260
The Genome Aggregation Database (gnomAD) 0.00270
1000 Genomes Project 30x 0.00297
Trans-Omics for Precision Medicine (TOPMed) 0.00454
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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WT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
896 | 1644 | |
LOC107982234 | - | - | - | GRCh38 | - | 725 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Benign (1) |
criteria provided, single submitter
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Jan 31, 2024 | RCV000229054.13 | |
Benign/Likely benign (2) |
criteria provided, multiple submitters, no conflicts
|
Dec 5, 2021 | RCV000259336.7 | |
Benign/Likely benign (2) |
criteria provided, multiple submitters, no conflicts
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Dec 5, 2021 | RCV000319093.7 | |
Benign (4) |
criteria provided, multiple submitters, no conflicts
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Aug 19, 2020 | RCV000250947.16 | |
Benign/Likely benign (2) |
criteria provided, multiple submitters, no conflicts
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Dec 5, 2021 | RCV000373790.7 | |
Benign (1) |
criteria provided, single submitter
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Dec 5, 2021 | RCV002243918.2 | |
Benign (3) |
criteria provided, multiple submitters, no conflicts
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Nov 8, 2023 | RCV001668399.7 | |
Benign (1) |
criteria provided, single submitter
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Dec 5, 2021 | RCV002243919.2 | |
Benign (1) |
criteria provided, single submitter
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May 1, 2020 | RCV002294090.2 | |
Benign (1) |
criteria provided, single submitter
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Sep 16, 2022 | RCV003588602.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Benign
(-)
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criteria provided, single submitter
Method: clinical testing
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NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV000314311.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
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Likely benign
(Apr 24, 2018)
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criteria provided, single submitter
Method: clinical testing
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Nephrotic syndrome, type 4
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000371514.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
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Likely benign
(Apr 24, 2018)
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criteria provided, single submitter
Method: clinical testing
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Wilms tumor 1
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000371513.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
|
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Likely benign
(Apr 24, 2018)
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criteria provided, single submitter
Method: clinical testing
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Meacham syndrome
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000371512.3
First in ClinVar: Dec 06, 2016 Last updated: May 31, 2020 |
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. (less)
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Benign
(May 30, 2020)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001370590.1
First in ClinVar: Jul 16, 2020 Last updated: Jul 16, 2020 |
|
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Benign
(Sep 28, 2018)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV001883532.1
First in ClinVar: Sep 19, 2021 Last updated: Sep 19, 2021 |
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Benign
(Aug 19, 2020)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: no
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV002072269.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
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Benign
(Dec 05, 2021)
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criteria provided, single submitter
Method: clinical testing
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Drash syndrome
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002515096.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
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Benign
(Dec 05, 2021)
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criteria provided, single submitter
Method: clinical testing
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Frasier syndrome
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002515098.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
|
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Benign
(Dec 05, 2021)
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criteria provided, single submitter
Method: clinical testing
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Meacham syndrome
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV002515099.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
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Benign
(Dec 05, 2021)
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criteria provided, single submitter
Method: clinical testing
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Nephrotic syndrome, type 4
Affected status: no
Allele origin:
germline
|
Genome-Nilou Lab
Accession: SCV002515100.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
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Benign
(Dec 05, 2021)
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criteria provided, single submitter
Method: clinical testing
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Wilms tumor 1
Affected status: no
Allele origin:
germline
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Genome-Nilou Lab
Accession: SCV002515101.1
First in ClinVar: May 21, 2022 Last updated: May 21, 2022 |
|
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Benign
(May 01, 2020)
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criteria provided, single submitter
Method: clinical testing
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Inherited focal segmental glomerulosclerosis
Affected status: unknown
Allele origin:
germline
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Genome Diagnostics Laboratory, The Hospital for Sick Children
Accession: SCV002587389.1
First in ClinVar: Oct 29, 2022 Last updated: Oct 29, 2022 |
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Benign
(Sep 16, 2022)
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criteria provided, single submitter
Method: clinical testing
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Nephroblastoma
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV004360963.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Benign
(Nov 08, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
germline
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ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001159614.4
First in ClinVar: Feb 10, 2020 Last updated: Feb 20, 2024 |
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Benign
(Jan 31, 2024)
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criteria provided, single submitter
Method: clinical testing
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Wilms tumor 1
Drash syndrome 11p partial monosomy syndrome Frasier syndrome
Explanation for multiple conditions: Uncertain.
The variant was classified for several related diseases, possibly a spectrum of disease; the variant may be associated with one or more the diseases.
Affected status: unknown
Allele origin:
germline
|
Invitae
Accession: SCV000290746.10
First in ClinVar: Jul 01, 2016 Last updated: Feb 28, 2024 |
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
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not specified
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001906192.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Likely benign
(-)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001928384.1 First in ClinVar: Sep 24, 2021 Last updated: Sep 24, 2021 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Prevalence and Prognostic Impact of Wilms' Tumor 1 (WT1) Gene, Including SNP rs16754 in Cytogenetically Normal Acute Myeloblastic Leukemia (CN-AML): An Iranian Experience. | Toogeh G | Clinical lymphoma, myeloma & leukemia | 2016 | PMID: 26725263 |
Incidences and Prognostic Impact of c-KIT, WT1, CEBPA, and CBL Mutations, and Mutations Associated With Epigenetic Modification in Core Binding Factor Acute Myeloid Leukemia: A Multicenter Study in a Korean Population. | Park SH | Annals of laboratory medicine | 2015 | PMID: 25932436 |
WT1 mutations are secondary events in AML, show varying frequencies and impact on prognosis between genetic subgroups. | Krauth MT | Leukemia | 2015 | PMID: 25110071 |
Prognostic implications of mutations and expression of the Wilms tumor 1 (WT1) gene in adult acute T-lymphoblastic leukemia. | Heesch S | Haematologica | 2010 | PMID: 20435628 |
Prevalence and prognostic implications of WT1 mutations in pediatric acute myeloid leukemia (AML): a report from the Children's Oncology Group. | Ho PA | Blood | 2010 | PMID: 20413658 |
WT1 mutation in 470 adult patients with acute myeloid leukemia: stability during disease evolution and implication of its incorporation into a survival scoring system. | Hou HA | Blood | 2010 | PMID: 20368469 |
Wilms tumor 1 gene mutations are associated with a higher risk of recurrence in young adults with acute myeloid leukemia: a study from the Acute Leukemia French Association. | Renneville A | Cancer | 2009 | PMID: 19536888 |
WT1 mutations in T-ALL. | Tosello V | Blood | 2009 | PMID: 19494353 |
Prognostic impact of WT1 mutations in cytogenetically normal acute myeloid leukemia: a study of the German-Austrian AML Study Group. | Gaidzik VI | Blood | 2009 | PMID: 19221039 |
Clinical relevance of Wilms tumor 1 gene mutations in childhood acute myeloid leukemia. | Hollink IH | Blood | 2009 | PMID: 19171881 |
Mutation of the Wilms' tumor 1 gene is a poor prognostic factor associated with chemotherapy resistance in normal karyotype acute myeloid leukemia: the United Kingdom Medical Research Council Adult Leukaemia Working Party. | Virappane P | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18591546 |
Wilms' tumor 1 gene mutations independently predict poor outcome in adults with cytogenetically normal acute myeloid leukemia: a cancer and leukemia group B study. | Paschka P | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2008 | PMID: 18559874 |
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Text-mined citations for rs2234581 ...
HelpRecord last updated Mar 11, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.