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NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr) AND Autosomal dominant nonsyndromic hearing loss 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 2002
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000004782.5

Allele description [Variation Report for NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr)]

NM_006005.3(WFS1):c.1901A>C (p.Lys634Thr)

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.1901A>C (p.Lys634Thr)
HGVS:
  • NC_000004.12:g.6301696A>C
  • NG_011700.1:g.36847A>C
  • NM_001145853.1:c.1901A>C
  • NM_006005.3:c.1901A>CMANE SELECT
  • NP_001139325.1:p.Lys634Thr
  • NP_005996.2:p.Lys634Thr
  • LRG_1417t1:c.1901A>C
  • LRG_1417:g.36847A>C
  • LRG_1417p1:p.Lys634Thr
  • NC_000004.11:g.6303423A>C
  • O76024:p.Lys634Thr
Protein change:
K634T; LYS634THR
Links:
UniProtKB: O76024#VAR_032963; OMIM: 606201.0018; dbSNP: rs104893882
NCBI 1000 Genomes Browser:
rs104893882
Molecular consequence:
  • NM_001145853.1:c.1901A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006005.3:c.1901A>C - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024958OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2002) 		germlineliterature only

Komatsu, K., Nakamura, N., Ghadami, M., Matsumoto, N., Kishino, T., Ohta, T., Niikawa, N., Yoshiura, K. Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family. J. Hum. Genet. 47: 395-399, 2002.

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Details of each submission

From OMIM, SCV000024958.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In a Japanese family in which 20 members had nonsyndromic low-frequency sensorineural hearing loss (DFNA6; 600965), Komatsu et al. (2002) demonstrated linkage to chromosome 4p16 and found a novel missense mutation, lys634 to thr (K634T), in the WFS1 gene. The mutation was located in the hydrophobic, extracytoplasmic, juxta-transmembrane region of the WFS1 protein. The mutation site was thought to be related to the milder phenotype (lacking tinnitus) in the Japanese family compared with the findings in 6 previously reported patients with WFS1 mutations (Lesperance et al., 1995; Strom et al., 1998).

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

Last Updated: Mar 16, 2024