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NM_000238.3(KCNH2):c.2362G>A (p.Glu788Lys) AND Cardiac arrhythmia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 26, 2012
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:
RCV000181850.1

Allele description

NM_000238.3(KCNH2):c.2362G>A (p.Glu788Lys)

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_000238.3(KCNH2):c.2362G>A (p.Glu788Lys)
HGVS:
  • NC_000007.14:g.150950204C>T
  • NG_008916.1:g.32723G>A
  • NM_000238.3:c.2362G>A
  • NM_172056.2:c.2362G>A
  • NM_172057.2:c.1342G>A
  • NP_000229.1:p.Glu788Lys
  • NP_742053.1:p.Glu788Lys
  • NP_742054.1:p.Glu448Lys
  • LRG_288t1:c.2362G>A
  • LRG_288t2:c.2362G>A
  • LRG_288t3:c.1342G>A
  • LRG_288:g.32723G>A
  • LRG_288p1:p.Glu788Lys
  • LRG_288p2:p.Glu788Lys
  • LRG_288p3:p.Glu448Lys
  • NC_000007.13:g.150647292C>T
  • NM_000238.2:c.2362G>A
  • p.E788K:GAG>AAG
Protein change:
E448K
Links:
dbSNP: rs199472997
NCBI 1000 Genomes Browser:
rs199472997
Molecular consequence:
  • NM_000238.3:c.2362G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiac arrhythmia
Synonyms:
EXTRASYSTOLES
Identifiers:
MedGen: CN029864; OMIM: 115000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234153GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Oct 26, 2012) 		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, SCV000234153.2

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

Description

p.Glu788Lys (GAG>AAG):c.2362 G>A in exon 9 of the KCNH2 gene (NM_000238.2)The Glu788Lys mutation in the KCNH2 gene has been published previously in association with LQTS and was absent in at least 2,600 reference alleles (Bhuiyan Z et al., 2009; Kapplinger J et al., 2009). Bhuiyan et al. (2009) reported Glu788Lys in a female patient with multiple short attacks of syncope and seizures from 12 years of age. The proband's ECG showed a biphasic T-wave and a QTc of 580ms. In addition, another mutation affecting this same residue, (Glu788Asp), as well as nearby residues (Gly785Ala, Gly785Val, Arg791Trp) have been reported in association with LQTS further supporting the functional importance of this residue in this region of the protein. Furthermore, the NHLBI ESP Exome Variant Server reports Glu788Lys was not observed in approximately 6,300 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations.In summary, Glu788Lys in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).

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

Last Updated: May 29, 2016