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NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 1, 2016
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:
RCV000181942.10

Allele description [Variation Report for NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys)]

NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys)
Other names:
p.R92C:CGC>TGC
HGVS:
  • NC_000007.14:g.150974744G>A
  • NG_008916.1:g.8183C>T
  • NM_000238.4:c.274C>TMANE SELECT
  • NM_001406755.1:c.97C>T
  • NM_172056.3:c.274C>T
  • NP_000229.1:p.Arg92Cys
  • NP_000229.1:p.Arg92Cys
  • NP_001393684.1:p.Arg33Cys
  • NP_742053.1:p.Arg92Cys
  • NP_742053.1:p.Arg92Cys
  • LRG_288t1:c.274C>T
  • LRG_288t2:c.274C>T
  • LRG_288:g.8183C>T
  • LRG_288p1:p.Arg92Cys
  • LRG_288p2:p.Arg92Cys
  • NC_000007.13:g.150671832G>A
  • NM_000238.2:c.274C>T
  • NM_000238.3:c.274C>T
  • NM_172056.2:c.274C>T
  • NR_176254.1:n.682C>T
Protein change:
R33C
Links:
dbSNP: rs563611707
NCBI 1000 Genomes Browser:
rs563611707
Molecular consequence:
  • NM_000238.4:c.274C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.97C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.274C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234245GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 1, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000234245.9

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Arg92Cys (CGC>TGC): c.274 C>T in exon 2 of the KCNH2 gene (NM_000238.2). The R92C variant in the KCNH2 gene has been observed in an individual with repaired Tetralogy of Fallot; however, this individual was not reported to have a history of cardiac life-threatening events and no specific clinical or functional studies were provided (Chiu et al., 2012). Additionally, the R92C variant was observed in approximately 0.2% (7/4120) alleles from individuals of East Asian background in the Exome Aggregation Consortium (ExAC) data set, further supporting that it may be a rare (benign) variant. Nevertheless, R92C is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. This substitution occurs at a position that is conserved across species. Consequently, in silico analysis predicts R92C is damaging to the protein structure/function. Although variants in nearby residues (E90K, E90Q, V94M) have been reported in HGMD in association with LQTS (Stenson et al., 2014), the pathogenicity of these variants have not been definitively determined. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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

Last Updated: Oct 13, 2024