NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 1, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000155347.3

Allele description [Variation Report for NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)]

NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)

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.1957C>T (p.Arg653Cys)
Other names:
p.R653C:CGC>TGC; NM_001145853.1(WFS1):c.1957C>T(p.Arg653Cys); NM_006005.3(WFS1):c.1957C>T(p.Arg653Cys)
HGVS:
  • NC_000004.12:g.6301752C>T
  • NG_011700.1:g.36903C>T
  • NM_001145853.1:c.1957C>T
  • NM_006005.3:c.1957C>TMANE SELECT
  • NP_001139325.1:p.Arg653Cys
  • NP_005996.2:p.Arg653Cys
  • LRG_1417t1:c.1957C>T
  • LRG_1417:g.36903C>T
  • LRG_1417p1:p.Arg653Cys
  • NC_000004.11:g.6303479C>T
  • O76024:p.Arg653Cys
Protein change:
R653C
Links:
UniProtKB: O76024#VAR_014037; dbSNP: rs201064551
NCBI 1000 Genomes Browser:
rs201064551
Molecular consequence:
  • NM_001145853.1:c.1957C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1957C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000205033Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Feb 1, 2014)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Missense variations of the gene responsible for Wolfram syndrome (WFS1/wolframin) in Japanese: possible contribution of the Arg456His mutation to type 1 diabetes as a nonautoimmune genetic basis.

Awata T, Inoue K, Kurihara S, Ohkubo T, Inoue I, Abe T, Takino H, Kanazawa Y, Katayama S.

Biochem Biophys Res Commun. 2000 Feb 16;268(2):612-6.

PubMed [citation]
PMID:
10679252

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000205033.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The Arg653Cys variant in WFS1 has not been previously reported in individuals wi th hearing loss. This variant has been identified in 0.035% (3/8600) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washi ngton.edu/EVS/; dbSNP rs201064551). Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide stro ng support for or against an impact to the protein. In summary, additional infor mation is needed to determine the clinical significance of this variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Jul 7, 2021

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