NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg) AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000144421.1

Allele description [Variation Report for NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg)]

NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg)

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.859G>C (p.Gly287Arg)

HGVS:

NC_000001.11:g.40819899G>C
NG_008139.1:g.40888G>C
NG_008139.2:g.40888G>C
NG_008139.3:g.41113G>C
NM_004700.4:c.859G>CMANE SELECT
NM_172163.3:c.859G>C
NP_004691.2:p.Gly287Arg
NP_751895.1:p.Gly287Arg
LRG_1378t1:c.859G>C
LRG_1378:g.41113G>C
LRG_1378p1:p.Gly287Arg
NC_000001.10:g.41285571G>C
NM_004700.3:c.859G>C
P56696:p.Gly287Arg

Nucleotide change:

c.859G>C

Protein change:

G287R

Links:

UniProtKB: P56696#VAR_065779; dbSNP: rs137853969

NCBI 1000 Genomes Browser:

rs137853969

Molecular consequence:

NM_004700.4:c.859G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_172163.3:c.859G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000189476	ClinVar Staff, National Center for Biotechnology Information (NCBI)	no classification provided	not provided	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000189476

ClinVar Staff, National Center for Biotechnology Information (NCBI)

no classification provided

not provided

germline

not provided

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

Description

The C allele was not found in 550 control chromosomes, but was found in all affected members (9)of the 17 members of the one family in this study.: SCV000189476

Help

Summary from all submissions

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

Citations

PubMed

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

Arnett J, Emery SB, Kim TB, Boerst AK, Lee K, Leal SM, Lesperance MM.

Arch Otolaryngol Head Neck Surg. 2011 Jan;137(1):54-9. doi: 10.1001/archoto.2010.234. Erratum in: Arch Otolaryngol Head Neck Surg. 2011 Jul;137(7):711.

PubMed [citation]

PMID:: 21242547
PMCID:: PMC3278911

Details of each submission

From ClinVar Staff, National Center for Biotechnology Information (NCBI), SCV000189476.1

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

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

Last Updated: Apr 23, 2022

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