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:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001445735	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Oct 4, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 11709537, 31363008 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445735

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Oct 4, 2019)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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