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NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) AND WFS1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 13, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004528845.2

Allele description [Variation Report for NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)]

NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)

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.1597C>T (p.Pro533Ser)
Other names:
p.P533S:CCC>TCC
HGVS:
  • NC_000004.12:g.6301392C>T
  • NG_011700.1:g.36543C>T
  • NM_001145853.1:c.1597C>T
  • NM_006005.3:c.1597C>TMANE SELECT
  • NP_001139325.1:p.Pro533Ser
  • NP_005996.2:p.Pro533Ser
  • LRG_1417t1:c.1597C>T
  • LRG_1417:g.36543C>T
  • LRG_1417p1:p.Pro533Ser
  • NC_000004.11:g.6303119C>T
  • p.P533S
Protein change:
P533S
Links:
dbSNP: rs146132083
NCBI 1000 Genomes Browser:
rs146132083
Molecular consequence:
  • NM_001145853.1:c.1597C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1597C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
WFS1-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004105134PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Sep 13, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004105134.3

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

Description

The WFS1 c.1597C>T variant is predicted to result in the amino acid substitution p.Pro533Ser. This variant has been reported along with a second WFS1 variant in individuals with Wolfram syndrome and/or optic atrophy (Table S1 in Majander et al. 2016. PubMed ID: 26875006; Table S2 in Charif et al. 2021. PubMed ID: 33841295). Additionally, here at PreventionGenetics, this variant has been detected in trans with a pathogenic variant in an individual undergoing testing for optic atrophy (internal data). This variant is reported in 0.15% of alleles in individuals of European (Non-Finnish) descent in gnomAD, indicating this variant is relatively common. This variant is interpreted as likely pathogenic.

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

Last Updated: Oct 26, 2024