NM_004700.3(KCNQ4):c.689T>A (p.Val230Glu) AND DFNA 2 Nonsyndromic Hearing Loss

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Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 20, 2015
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:: RCV000193083.1

Allele description

NM_004700.3(KCNQ4):c.689T>A (p.Val230Glu)

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_004700.3(KCNQ4):c.689T>A (p.Val230Glu)

HGVS:

NC_000001.11:g.40818661T>A
NG_008139.1:g.39650T>A
NM_004700.3:c.689T>A
NP_004691.2:p.Val230Glu
NC_000001.10:g.41284333T>A
NM_004700.2:c.689T>A

Protein change:

V230E

Links:

dbSNP: rs797044965

NCBI 1000 Genomes Browser:

rs797044965

Molecular consequence:

NM_004700.3:c.689T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: DFNA 2 Nonsyndromic Hearing Loss (DFNA2A)
Synonyms:: Deafness, autosomal dominant 2A
Identifiers:: MedGen: C2677637; Orphanet: 90635; OMIM: 600101

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000244280	GeneReviews	no assertion criteria provided	Pathogenic (Aug 20, 2015)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000244280

GeneReviews

no assertion criteria provided

Pathogenic
(Aug 20, 2015)

germline

literature only

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Japanese	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S.

PLoS One. 2013 May 23;8(5):e63231. doi: 10.1371/journal.pone.0063231. Print 2013.

PubMed [citation]

PMID:: 23717403
PMCID:: PMC3662675

Details of each submission

From GeneReviews, SCV000244280.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Japanese	not provided	not provided	not provided	literature only	PubMed (1)

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

Last Updated: May 11, 2018

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