NM_006005.3(WFS1):c.2119G>A (p.Val707Ile) AND WFS1-Related Spectrum Disorders

Clinical significance:Uncertain significance (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001157675.1

Allele description [Variation Report for NM_006005.3(WFS1):c.2119G>A (p.Val707Ile)]

NM_006005.3(WFS1):c.2119G>A (p.Val707Ile)

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.2119G>A (p.Val707Ile)
HGVS:
  • NC_000004.12:g.6301914G>A
  • NG_011700.1:g.37065G>A
  • NM_001145853.1:c.2119G>A
  • NM_006005.3:c.2119G>AMANE SELECT
  • NP_001139325.1:p.Val707Ile
  • NP_005996.2:p.Val707Ile
  • LRG_1417t1:c.2119G>A
  • LRG_1417:g.37065G>A
  • LRG_1417p1:p.Val707Ile
  • NC_000004.11:g.6303641G>A
  • p.V707I
Protein change:
V707I
Links:
dbSNP: rs71524377
NCBI 1000 Genomes Browser:
rs71524377
Molecular consequence:
  • NM_001145853.1:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.2119G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
WFS1-Related Spectrum Disorders
Identifiers:
MedGen: CN239410

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001319271Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 28, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.

de Heredia ML, Clèries R, Nunes V.

Genet Med. 2013 Jul;15(7):497-506. doi: 10.1038/gim.2012.180. Epub 2013 Feb 21.

PubMed [citation]
PMID:
23429432

WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.

Zalloua PA, Azar ST, Delépine M, Makhoul NJ, Blanc H, Sanyoura M, Lavergne A, Stankov K, Lemainque A, Baz P, Julier C.

Hum Mol Genet. 2008 Dec 15;17(24):4012-21. doi: 10.1093/hmg/ddn304. Epub 2008 Sep 20.

PubMed [citation]
PMID:
18806274

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001319271.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Apr 12, 2021

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