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NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) AND Inborn genetic diseases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 4, 2019
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:
RCV001267554.2

Allele description [Variation Report for NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)]

NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro)

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.2486T>C (p.Leu829Pro)
HGVS:
  • NC_000004.12:g.6302281T>C
  • NG_011700.1:g.37432T>C
  • NM_001145853.1:c.2486T>C
  • NM_006005.3:c.2486T>CMANE SELECT
  • NP_001139325.1:p.Leu829Pro
  • NP_005996.2:p.Leu829Pro
  • LRG_1417t1:c.2486T>C
  • LRG_1417:g.37432T>C
  • LRG_1417p1:p.Leu829Pro
  • NC_000004.11:g.6304008T>C
  • O76024:p.Leu829Pro
Protein change:
L829P; LEU829PRO
Links:
UniProtKB: O76024#VAR_032967; OMIM: 606201.0015; dbSNP: rs104893883
NCBI 1000 Genomes Browser:
rs104893883
Molecular consequence:
  • NM_001145853.1:c.2486T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.2486T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001445735Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))		Likely pathogenic
(Oct 4, 2019) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Bespalova IN, Van Camp G, Bom SJ, Brown DJ, Cryns K, DeWan AT, Erson AE, Flothmann K, Kunst HP, Kurnool P, Sivakumaran TA, Cremers CW, Leal SM, Burmeister M, Lesperance MM.

Hum Mol Genet. 2001 Oct 15;10(22):2501-8.

PubMed [citation]
PMID:
11709537
PMCID:
PMC6198816

Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome.

Lusk L, Black E, Vengoechea J.

J Med Genet. 2020 Feb;57(2):121-123. doi: 10.1136/jmedgenet-2018-105782. Epub 2019 Jul 30.

PubMed [citation]
PMID:
31363008

Details of each submission

From Ambry Genetics, SCV001445735.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024