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NM_024426.5(WT1):c.1131T>C (p.Pro377=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 19, 2018)
Last evaluated:
Jan 2, 2018
Accession:
VCV000198590.1
Variation ID:
198590
Description:
single nucleotide variant
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NM_024426.5(WT1):c.1131T>C (p.Pro377=)

Allele ID
195751
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p13
Genomic location
11: 32396390 (GRCh38) GRCh38 UCSC
11: 32417936 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.9:g.32417936A>G
NC_000011.10:g.32396390A>G
NM_001198551.1:c.480T>C NP_001185480.1:p.Pro160=
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00039
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00031
1000 Genomes Project 0.00040
The Genome Aggregation Database (gnomAD) 0.00036
Exome Aggregation Consortium (ExAC) 0.00033
Trans-Omics for Precision Medicine (TOPMed) 0.00039
Links
dbSNP: rs151034312
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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 Aug 3, 2017 RCV000179974.3
Likely benign 1 criteria provided, single submitter Jan 2, 2018 RCV000234161.4
Uncertain significance 1 criteria provided, single submitter Oct 23, 2014 RCV000724105.1
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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
208 362

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 03, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000729785.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at ... (more)
Likely benign
(Jan 02, 2018)
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: SCV000290745.4
Submitted: (Apr 02, 2018)
Evidence details
Uncertain significance
(Oct 23, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000232301.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=WT1 - - - -

Record last updated Jun 22, 2019