NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) AND Autosomal dominant nonsyndromic hearing loss 6

Germline classification:: Likely benign (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV000264975.6

Allele description [Variation Report for NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)]

NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)

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.2209G>A (p.Glu737Lys)

HGVS:

NC_000004.12:g.6302004G>A
NG_011700.1:g.37155G>A
NM_001145853.1:c.2209G>A
NM_006005.3:c.2209G>AMANE SELECT
NP_001139325.1:p.Glu737Lys
NP_005996.2:p.Glu737Lys
LRG_1417t1:c.2209G>A
LRG_1417:g.37155G>A
LRG_1417p1:p.Glu737Lys
NC_000004.11:g.6303731G>A
O76024:p.Glu737Lys
p.E737K

Protein change:

E737K

Links:

UniProtKB: O76024#VAR_011312; dbSNP: rs147834269

NCBI 1000 Genomes Browser:

rs147834269

Molecular consequence:

NM_001145853.1:c.2209G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_006005.3:c.2209G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal dominant nonsyndromic hearing loss 6 (LFSNHL)
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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000450660	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 17492394, 22938506, 20738327, 12955714 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000450660

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

PubMed (4)
[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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.

Fukuoka H, Kanda Y, Ohta S, Usami SI.

J Hum Genet. 2007;52(6):510-515. doi: 10.1007/s10038-007-0144-3. Epub 2007 May 11.

PubMed [citation]

PMID:: 17492394

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

Baek JI, Oh SK, Kim DB, Choi SY, Kim UK, Lee KY, Lee SH.

Orphanet J Rare Dis. 2012 Sep 3;7:60. doi: 10.1186/1750-1172-7-60.

PubMed [citation]

PMID:: 22938506
PMCID:: PMC3495859

See all PubMed Citations (4)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000450660.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

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.

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

Last Updated: Oct 20, 2024

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