NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) AND Autosomal dominant nonsyndromic hearing loss 2A

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Jan 14, 2011
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:: RCV000006619.17

Allele description [Variation Report for NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)]

NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)

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.853G>A (p.Gly285Ser)

Other names:

NM_004700.3(KCNQ4):c.853G>A(p.Gly285Ser); NM_004700.3(KCNQ4):c.853G>A

HGVS:

NC_000001.11:g.40819893G>A
NG_008139.3:g.41107G>A
NM_004700.4:c.853G>AMANE SELECT
NM_172163.3:c.853G>A
NP_004691.2:p.Gly285Ser
NP_751895.1:p.Gly285Ser
LRG_1378t1:c.853G>A
LRG_1378:g.41107G>A
LRG_1378p1:p.Gly285Ser
NC_000001.10:g.41285565G>A
NG_008139.1:g.40882G>A
NG_008139.2:g.40882G>A
NM_004700.2:c.853G>A
NM_004700.3:c.853G>A
P56696:p.Gly285Ser

Protein change:

G285S; GLY285SER

Links:

UniProtKB: P56696#VAR_001547; OMIM: 603537.0001; dbSNP: rs28937588

NCBI 1000 Genomes Browser:

rs28937588

Molecular consequence:

NM_004700.4:c.853G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_172163.3:c.853G>A - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026802	OMIM	no assertion criteria provided	Pathogenic (Jan 14, 2011)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10025409, 20966080
SCV000041116	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 10025409, 25116015

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026802

OMIM

no assertion criteria provided

Pathogenic
(Jan 14, 2011)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV000041116

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

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
Northern European, Han Chinese	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2.

Kim HJ, Lv P, Sihn CR, Yamoah EN.

J Biol Chem. 2011 Jan 14;286(2):1517-27. doi: 10.1074/jbc.M110.179010. Epub 2010 Oct 21.

PubMed [citation]

PMID:: 20966080
PMCID:: PMC3020760

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.

Kubisch C, Schroeder BC, Friedrich T, Lütjohann B, El-Amraoui A, Marlin S, Petit C, Jentsch TJ.

Cell. 1999 Feb 5;96(3):437-46.

PubMed [citation]

PMID:: 10025409

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000026802.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a family with autosomal dominant deafness (DFNA2A; 600101), Kubisch et al. (1999) identified a gly285-to-ser (GGC-to-AGC) mutation in heterozygous state. This mutation segregated with all affected members in the pedigree and was not found on 150 control Caucasian chromosomes.

Kim et al. (2011) referred to this mutation as resulting from an 853G-A transition in exon 6, resulting in a G285S substitution in the pore region of the protein.

#	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

From GeneReviews, SCV000041116.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Northern European, Han Chinese	not provided	not provided	not provided	literature only	PubMed (2)

#	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 1, 2024

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