NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Feb 6, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000221182.1

Allele description [Variation Report for NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)]

NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)

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.1037C>T (p.Pro346Leu)
HGVS:
  • NC_000004.12:g.6300832C>T
  • NG_011700.1:g.35983C>T
  • NM_001145853.1:c.1037C>T
  • NM_006005.3:c.1037C>TMANE SELECT
  • NP_001139325.1:p.Pro346Leu
  • NP_005996.2:p.Pro346Leu
  • LRG_1417t1:c.1037C>T
  • LRG_1417:g.35983C>T
  • LRG_1417p1:p.Pro346Leu
  • NC_000004.11:g.6302559C>T
Protein change:
P346L
Links:
dbSNP: rs773900146
NCBI 1000 Genomes Browser:
rs773900146
Molecular consequence:
  • NM_001145853.1:c.1037C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1037C>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
SCV000272908Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Uncertain significance
(Feb 6, 2015)
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

Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome.

Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V; French Group of Wolfram Syndrome., Vialettes B.

Am J Med Genet A. 2007 Jul 15;143A(14):1605-12.

PubMed [citation]
PMID:
17568405

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, SCV000272908.3

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

Description

The p.Pro346Leu variant in WFS1 has been reported as compound heterozygous in 1 Caucasian individual with Wolfram syndrome (Cano 2007). This variant has also be en identified in 1/6748 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org); however, its frequency is not high enou gh to rule out a pathogenicity. Computational prediction tools and conservation analyses suggest that the p.Pro346Leu variant may impact the protein, though thi s information is not predictive enough to determine pathogenicity. In summary, t he clinical significance of the p.Pro346Leu variant is uncertain.

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

Last Updated: Jul 7, 2021

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