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NM_006005.3(WFS1):c.2119G>A (p.Val707Ile)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Feb 20, 2020)
Last evaluated:
Apr 28, 2017
Accession:
VCV000215367.2
Variation ID:
215367
Description:
single nucleotide variant
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NM_006005.3(WFS1):c.2119G>A (p.Val707Ile)

Allele ID
211072
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.1
Genomic location
4: 6301914 (GRCh38) GRCh38 UCSC
4: 6303641 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.6303641G>A
NC_000004.12:g.6301914G>A
NM_006005.3:c.2119G>A MANE Select NP_005996.2:p.Val707Ile missense
... more HGVS
Protein change
V707I
Other names
-
Canonical SPDI
NC_000004.12:6301913:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00018
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
ClinGen: CA325333
dbSNP: rs71524377
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 Dec 30, 2013 RCV000200753.2
Uncertain significance 1 criteria provided, single submitter Apr 28, 2017 RCV001157674.1
Uncertain significance 1 criteria provided, single submitter Apr 28, 2017 RCV001157675.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WFS1 No evidence available No evidence available GRCh38
GRCh37
740 815

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
WFS1-Related Spectrum Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001319271.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (2)
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)
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant nonsyndromic deafness 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001319270.1
Submitted: (Feb 20, 2020)
Evidence details
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)
Likely benign
(Dec 30, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000252496.11
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)

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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Title Author Journal Year Link
Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype. de Heredia ML Genetics in medicine : official journal of the American College of Medical Genetics 2013 PMID: 23429432
WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon. Zalloua PA Human molecular genetics 2008 PMID: 18806274

Text-mined citations for rs71524377...

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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 Apr 08, 2021