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NM_006005.3(WFS1):c.2250C>T (p.Ala750=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(6);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Sep 25, 2021)
Last evaluated:
Jul 13, 2020
Accession:
VCV000228236.9
Variation ID:
228236
Description:
single nucleotide variant
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NM_006005.3(WFS1):c.2250C>T (p.Ala750=)

Allele ID
229198
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.1
Genomic location
4: 6302045 (GRCh38) GRCh38 UCSC
4: 6303772 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.6303772C>T
NC_000004.12:g.6302045C>T
NG_011700.1:g.37196C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000004.12:6302044:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Trans-Omics for Precision Medicine (TOPMed) 0.00026
The Genome Aggregation Database (gnomAD) 0.00010
Links
ClinGen: CA2839661
dbSNP: rs369498603
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Jun 13, 2016 RCV000220143.5
Likely benign 3 criteria provided, multiple submitters, no conflicts Jul 13, 2020 RCV000993558.3
Likely benign 1 criteria provided, single submitter Apr 27, 2017 RCV001156085.1
Uncertain significance 1 criteria provided, single submitter Apr 27, 2017 RCV001156086.1
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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
763 838

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 13, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000597978.1
Submitted: (Jul 05, 2017)
Evidence details
Likely benign
(Apr 30, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000271195.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ala750Ala in Exon 08 of WFS1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, … (more)
Likely benign
(Jul 13, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000529216.4
Submitted: (Sep 25, 2021)
Evidence details
Likely benign
(May 15, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001146653.1
Submitted: (Sep 25, 2019)
Evidence details
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant nonsyndromic deafness 6
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001317567.1
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)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
WFS1-Related Spectrum Disorders
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001317568.1
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
(Feb 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001334571.4
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 rs369498603...

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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 26, 2021