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NM_006005.3(WFS1):c.173C>T (p.Ala58Val)

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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: Jan 7, 2021)
Last evaluated:
Aug 3, 2020
Accession:
VCV000516852.2
Variation ID:
516852
Description:
single nucleotide variant
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NM_006005.3(WFS1):c.173C>T (p.Ala58Val)

Allele ID
500855
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.1
Genomic location
4: 6277628 (GRCh38) GRCh38 UCSC
4: 6279355 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.6279355C>T
NC_000004.12:g.6277628C>T
NM_006005.3:c.173C>T MANE Select NP_005996.2:p.Ala58Val missense
... more HGVS
Protein change
A58V
Other names
-
Canonical SPDI
NC_000004.12:6277627:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00017
Exome Aggregation Consortium (ExAC) 0.00034
The Genome Aggregation Database (gnomAD), exomes 0.00023
The Genome Aggregation Database (gnomAD) 0.00016
Links
ClinGen: CA2838811
dbSNP: rs369671890
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 Sep 8, 2017 RCV000602626.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 3, 2020 RCV000730495.2
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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
757 832

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 08, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000730497.1
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)
Uncertain significance
(Dec 12, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000858237.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Aug 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001593366.1
Submitted: (Jan 07, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=WFS1 - - - -

Text-mined citations for rs369671890...

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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 May 19, 2021