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NM_006005.3(WFS1):c.143C>T (p.Ala48Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Mar 21, 2019)
Last evaluated:
Jul 13, 2017
Accession:
VCV000045435.3
Variation ID:
45435
Description:
single nucleotide variant
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NM_006005.3(WFS1):c.143C>T (p.Ala48Val)

Allele ID
54602
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p16.1
Genomic location
4: 6277598 (GRCh38) GRCh38 UCSC
4: 6279325 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.6279325C>T
NC_000004.12:g.6277598C>T
NM_006005.3:c.143C>T MANE Select NP_005996.2:p.Ala48Val missense
... more HGVS
Protein change
A48V
Other names
-
Canonical SPDI
NC_000004.12:6277597:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA136334
dbSNP: rs397517195
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 Nov 20, 2012 RCV000038639.4
Uncertain significance 1 criteria provided, single submitter Jul 13, 2017 RCV000766857.1
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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
718 793

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 13, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000618806.1
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The A48V variant in the WFS1 gene has not been reported previously as a pathogenic variant, nor asa benign variant, to our knowledge. This variant … (more)
Likely benign
(Nov 20, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062317.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ala48Val in exon 2 of WFS1: This variant is not expected to have clinical signif icance due to a lack of conservation across species 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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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 rs397517195...

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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 Jul 07, 2021