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NM_006005.3(WFS1):c.716A>G (p.Lys239Arg) AND Wolfram syndrome 1

Germline classification:
Uncertain risk allele (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002509249.3

Allele description [Variation Report for NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)]

NM_006005.3(WFS1):c.716A>G (p.Lys239Arg)

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.716A>G (p.Lys239Arg)
HGVS:
  • NC_000004.12:g.6295044A>G
  • NG_011700.1:g.30195A>G
  • NM_001145853.1:c.716A>G
  • NM_006005.3:c.716A>GMANE SELECT
  • NP_001139325.1:p.Lys239Arg
  • NP_005996.2:p.Lys239Arg
  • LRG_1417t1:c.716A>G
  • LRG_1417:g.30195A>G
  • LRG_1417p1:p.Lys239Arg
  • NC_000004.11:g.6296771A>G
Protein change:
K239R
Links:
dbSNP: rs727503747
NCBI 1000 Genomes Browser:
rs727503747
Molecular consequence:
  • NM_001145853.1:c.716A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.716A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Wolfram syndrome 1 (WFS1)
Identifiers:
MONDO: MONDO:0009101; MedGen: C4551693; Orphanet: 3463; OMIM: 222300

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002773882Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic
criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)		Uncertain risk alleleunknownresearch

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Wolfram syndrome and WFS1 gene.

Rigoli L, Lombardo F, Di Bella C.

Clin Genet. 2011 Feb;79(2):103-17. doi: 10.1111/j.1399-0004.2010.01522.x. Epub 2010 Aug 26. Review.

PubMed [citation]
PMID:
20738327

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.

Gong Y, Xiong L, Li X, Su L, Xiao H.

BMC Endocr Disord. 2021 Apr 21;21(1):76. doi: 10.1186/s12902-021-00748-z.

PubMed [citation]
PMID:
33879153
PMCID:
PMC8059287
See all PubMed Citations (6)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002773882.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providedresearch PubMed (6)

Description

Potent mutations in WFS1 gene are associated with Wolfram's syndrome, an autosomal recessive condition, which cause diabetes mellitus, diabetes insipidus, deafness and optic atrophy. However no sufficient evidence is found to ascertain the role of this particular variant rs727503747 in Wolfram's syndrome yet.

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

Last Updated: May 16, 2025