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NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp) AND Wolfram-like syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 2, 2022
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:
RCV002291002.2

Allele description [Variation Report for NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp)]

NM_006005.3(WFS1):c.1759C>T (p.Arg587Trp)

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.1759C>T (p.Arg587Trp)
HGVS:
  • NC_000004.12:g.6301554C>T
  • NG_011700.1:g.36705C>T
  • NM_001145853.1:c.1759C>T
  • NM_006005.3:c.1759C>TMANE SELECT
  • NP_001139325.1:p.Arg587Trp
  • NP_005996.2:p.Arg587Trp
  • LRG_1417t1:c.1759C>T
  • LRG_1417:g.36705C>T
  • LRG_1417p1:p.Arg587Trp
  • NC_000004.11:g.6303281C>T
Protein change:
R587W
Links:
dbSNP: rs138968466
NCBI 1000 Genomes Browser:
rs138968466
Molecular consequence:
  • NM_001145853.1:c.1759C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1759C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Wolfram-like syndrome
Synonyms:
HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION; Wolfram-like syndrome, autosomal dominant
Identifiers:
MONDO: MONDO:0013673; MedGen: C3280358; Orphanet: 411590; OMIM: 614296

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002583441Clinical Genetics Laboratory, University Hospital Schleswig-Holstein
no assertion criteria provided
Uncertain significance
(May 2, 2022) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Genetics Laboratory, University Hospital Schleswig-Holstein, SCV002583441.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 20, 2024