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NM_024426.6(WT1):c.375C>T (p.Gly125=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
May 1, 2021
Accession:
VCV000241481.12
Variation ID:
241481
Description:
single nucleotide variant
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NM_024426.6(WT1):c.375C>T (p.Gly125=)

Allele ID
241134
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p13
Genomic location
11: 32434986 (GRCh38) GRCh38 UCSC
11: 32456532 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_525:g.5556C>T
NC_000011.10:g.32434986G>A
NC_000011.9:g.32456532G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000011.10:32434985:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00019
Trans-Omics for Precision Medicine (TOPMed) 0.00022
The Genome Aggregation Database (gnomAD), exomes 0.00037
Exome Aggregation Consortium (ExAC) 0.00043
The Genome Aggregation Database (gnomAD) 0.00039
The Genome Aggregation Database (gnomAD) 0.00116
Links
dbSNP: rs776209354
ClinGen: CA064860
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter May 1, 2021 RCV000229394.10
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000338855.2
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000373715.2
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV000402704.2
Benign 1 criteria provided, single submitter Nov 21, 2020 RCV001081658.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WT1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
476 872
LOC107982234 - - - GRCh38 - 369

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Wilms tumor 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000371480.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Nephrotic syndrome, type 4
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000371483.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Meacham syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000371482.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 21, 2020)
criteria provided, single submitter
Method: clinical testing
Wilms tumor 1
Drash syndrome
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
Frasier syndrome
Allele origin: germline
Invitae
Accession: SCV000290752.7
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001148224.7
Submitted: (Jul 04, 2021)
Evidence details

Functional evidence

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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 this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs776209354...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 02, 2021