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NM_006005.3(WFS1):c.1491C>T (p.Val497=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 23, 2021)
Last evaluated:
Jul 31, 2018
Accession:
VCV000166590.4
Variation ID:
166590
Description:
single nucleotide variant
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NM_006005.3(WFS1):c.1491C>T (p.Val497=)

Allele ID
173829
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.1
Genomic location
4: 6301286 (GRCh38) GRCh38 UCSC
4: 6303013 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.6303013C>T
NC_000004.12:g.6301286C>T
NG_011700.1:g.36437C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:6301285:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00200 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00030
The Genome Aggregation Database (gnomAD) 0.00162
Exome Aggregation Consortium (ExAC) 0.00041
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00123
Trans-Omics for Precision Medicine (TOPMed) 0.00131
1000 Genomes Project 0.00200
Links
ClinGen: CA295572
dbSNP: rs148310584
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 10, 2015 RCV000152677.4
Benign 2 criteria provided, single submitter Jul 31, 2018 RCV000945633.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WFS1 No evidence available No evidence available GRCh38
GRCh37
763 838

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Sep 16, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000252484.11
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
(Aug 10, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000202041.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Val497Val in exon 8 of WFS1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, … (more)
Benign
(Jul 31, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001091669.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001923789.1
Submitted: (Sep 23, 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 rs148310584...

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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 Sep 24, 2021