U.S. flag

An official website of the United States government

NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) AND Autosomal dominant nonsyndromic hearing loss 2A

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 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:
RCV000006620.7

Allele description [Variation Report for NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)]

NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)

Gene:
KCNQ4:potassium voltage-gated channel subfamily Q member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.2
Genomic location:
Preferred name:
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)
HGVS:
  • NC_000001.11:g.40819465G>C
  • NG_008139.3:g.40679G>C
  • NM_004700.4:c.827G>CMANE SELECT
  • NM_172163.3:c.827G>C
  • NP_004691.2:p.Trp276Ser
  • NP_751895.1:p.Trp276Ser
  • LRG_1378t1:c.827G>C
  • LRG_1378:g.40679G>C
  • LRG_1378p1:p.Trp276Ser
  • NC_000001.10:g.41285137G>C
  • NG_008139.1:g.40454G>C
  • NG_008139.2:g.40454G>C
  • NM_004700.2:c.827G>C
  • NM_004700.3:c.827G>C
  • P56696:p.Trp276Ser
Protein change:
W276S; TRP276SER
Links:
UniProtKB: P56696#VAR_008726; OMIM: 603537.0002; dbSNP: rs80358277
NCBI 1000 Genomes Browser:
rs80358277
Molecular consequence:
  • NM_004700.4:c.827G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172163.3:c.827G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 2A
Synonyms:
DFNA 2 Nonsyndromic Hearing Loss; Deafness, autosomal dominant 2A; Autosomal dominant nonsyndromic deafness 2A
Identifiers:
MONDO: MONDO:0010817; MedGen: C2677637; Orphanet: 90635; OMIM: 600101

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026803OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2002) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

SCV000041114GeneReviews
no classification provided
not providedunknownliterature only

PubMed (5)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.

Coucke P, Van Camp G, Djoyodiharjo B, Smith SD, Frants RR, Padberg GW, Darby JK, Huizing EH, Cremers CW, Kimberling WJ, et al.

N Engl J Med. 1994 Aug 18;331(7):425-31.

PubMed [citation]
PMID:
8035838

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G.

Hum Mol Genet. 1999 Jul;8(7):1321-8.

PubMed [citation]
PMID:
10369879
See all PubMed Citations (6)

Details of each submission

From OMIM, SCV000026803.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In a Dutch family with autosomal dominant deafness (DFNA2A; 600101), Coucke et al. (1999) identified an 827G-C transversion in exon 5 of the KCNQ4 gene resulting in a trp276-to-ser (W276S) mutation in the pore region of the protein.

Akita et al. (2001) found this mutation in a Japanese family with deafness in 4 successive generations.

Van Camp et al. (2002) described 2 additional families originating from Europe and Japan with the W276S mutation. They compared the disease-associated haplotype of the 3 W276S-bearing families using closely linked microsatellite markers and intragenic SNPS. Van Camp et al. (2002) found differences between the haplotypes, excluding a single founder mutation for the families. Therefore, the W276S mutation has occurred 3 times independently, and most likely represents a hotspot for a mutation in the KCNQ4 gene.

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

From GeneReviews, SCV000041114.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Dec 24, 2023