NM_006005.3(WFS1):c.143C>T (p.Ala48Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Jul 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000766857.1

Allele description [Variation Report for NM_006005.3(WFS1):c.143C>T (p.Ala48Val)]

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

Gene:
WFS1:wolframin ER transmembrane glycoprotein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.1
Genomic location:
Preferred name:
NM_006005.3(WFS1):c.143C>T (p.Ala48Val)
HGVS:
  • NC_000004.12:g.6277598C>T
  • NG_011700.1:g.12749C>T
  • NM_001145853.1:c.143C>T
  • NM_006005.3:c.143C>TMANE SELECT
  • NP_001139325.1:p.Ala48Val
  • NP_005996.2:p.Ala48Val
  • LRG_1417t1:c.143C>T
  • LRG_1417:g.12749C>T
  • LRG_1417p1:p.Ala48Val
  • NC_000004.11:g.6279325C>T
  • c.143C>T
Protein change:
A48V
Links:
dbSNP: rs397517195
NCBI 1000 Genomes Browser:
rs397517195
Molecular consequence:
  • NM_001145853.1:c.143C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.143C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000618806GeneDxcriteria provided, single submitter
Uncertain significance
(Jul 13, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000618806.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 is not observed in large population cohorts (Lek etal., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A48V variant is aconservative amino acid substitution, which is not likely to impact secondary protein structure asthese residues share similar properties. This substitution occurs at a position that is not conserved. Insilico analysis predicts this variant likely does not alter the protein structure/function. We interpretA48V as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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