Skip to main page content
Accesskeys

ClinVar Genomic variation as it relates to human health

Advanced search

NM_024426.5(WT1):c.345C>T (p.Pro115=)

Help
Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Sep 19, 2018)
Last evaluated:
Apr 14, 2017
Accession:
VCV000193454.1
Variation ID:
193454
Description:
single nucleotide variant
Help

NM_024426.5(WT1):c.345C>T (p.Pro115=)

Allele ID
190618
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p13
Genomic location
11: 32435016 (GRCh38) GRCh38 UCSC
11: 32456562 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.32435016G>A
NC_000011.9:g.32456562G>A
NM_024426.5:c.345C>T NP_077744.4:p.Pro115= synonymous
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.30391 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.17514
1000 Genomes Project 0.30391
Exome Aggregation Consortium (ExAC) 0.32426
The Genome Aggregation Database (gnomAD) 0.16467
The Genome Aggregation Database (gnomAD), exomes 0.27492
Links
dbSNP: rs1799925
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Mar 3, 2016 RCV000173525.3
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000268679.1
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000309796.1
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000363346.1
Benign 1 criteria provided, single submitter Jun 14, 2016 RCV000364660.1
Benign 1 criteria provided, single submitter Apr 14, 2017 RCV000576511.1
Benign 1 criteria provided, single submitter May 26, 2016 RCV000588463.1
Help
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
LOC107982234 - - - GRCh38 - 133

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000314313.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Meacham Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000371491.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Wilms Tumor
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000371488.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
WAGR Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000371489.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Diffuse Mesangial Sclerosis Syndromes (DMS)
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000371490.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Apr 14, 2017)
criteria provided, single submitter
Method: clinical testing
Frasier syndrome
Wilms tumor 1
Drash syndrome
Diffuse mesangial sclerosis
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000677585.1
Submitted: (Jul 17, 2017)
Evidence details
Benign
(May 26, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000699503.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The WT1 c.330C>T (p.Pro110Pro) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant effect on ... (more)
Benign
(Mar 03, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000518965.4
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)
Benign
(May 21, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000224646.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...
http://www.ncbi.nlm.nih.gov/va...

Record last updated Jun 04, 2019