NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND Autosomal dominant nonsyndromic deafness 6

Clinical significance:Likely benign (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:
RCV000300529.2

Allele description [Variation Report for NM_006005.3(WFS1):c.2335G>A (p.Val779Met)]

NM_006005.3(WFS1):c.2335G>A (p.Val779Met)

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.2335G>A (p.Val779Met)
HGVS:
  • NC_000004.12:g.6302130G>A
  • NG_011700.1:g.37281G>A
  • NM_001145853.1:c.2335G>A
  • NM_006005.3:c.2335G>AMANE SELECT
  • NP_001139325.1:p.Val779Met
  • NP_005996.2:p.Val779Met
  • LRG_1417t1:c.2335G>A
  • LRG_1417:g.37281G>A
  • LRG_1417p1:p.Val779Met
  • NC_000004.11:g.6303857G>A
  • O76024:p.Val779Met
  • c.2335G>A
  • p.V779M
Protein change:
V779M
Links:
UniProtKB: O76024#VAR_032966; dbSNP: rs141328044
NCBI 1000 Genomes Browser:
rs141328044
Molecular consequence:
  • NM_001145853.1:c.2335G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.2335G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant nonsyndromic deafness 6 (DFNA6)
Synonyms:
DEAFNESS, AUTOSOMAL DOMINANT 6; DEAFNESS, AUTOSOMAL DOMINANT 14; DEAFNESS, AUTOSOMAL DOMINANT 38; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010963; MedGen: C1833021; Orphanet: 90635; OMIM: 600965

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000450672Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Likely benign
(Apr 28, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000450672.3

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

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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Jul 7, 2021

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