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NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 16, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000603791.4

Allele description [Variation Report for NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys)]

NM_004700.4(KCNQ4):c.682G>T (p.Gly228Cys)

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.682G>T (p.Gly228Cys)
HGVS:
  • NC_000001.11:g.40818654G>T
  • NG_008139.3:g.39868G>T
  • NM_004700.4:c.682G>TMANE SELECT
  • NM_172163.3:c.682G>T
  • NP_004691.2:p.Gly228Cys
  • NP_751895.1:p.Gly228Cys
  • LRG_1378t1:c.682G>T
  • LRG_1378:g.39868G>T
  • LRG_1378p1:p.Gly228Cys
  • NC_000001.10:g.41284326G>T
  • NG_008139.1:g.39643G>T
  • NG_008139.2:g.39643G>T
  • NM_004700.3:c.682G>T
Protein change:
G228C
Links:
dbSNP: rs367890569
NCBI 1000 Genomes Browser:
rs367890569
Molecular consequence:
  • NM_004700.4:c.682G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172163.3:c.682G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000711085Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Uncertain significance
(Feb 16, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000711085.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.Gly228Cys variant in KCNQ4 has not been previously reported in individuals with hearing loss, but has been identified in 1/51990 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3 67890569). Although this variant has been seen in the general population, its fr equency is not high enough to rule out a pathogenic role. Computational predicti on tools and conservation analysis suggest that the p.Gly228Cys variant may impa ct the protein, though this information is not predictive enough to determine pa thogenicity. In summary, the clinical significance of the p.Gly228Cys variant is uncertain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Feb 28, 2024