U.S. flag

An official website of the United States government

  • delete

NM_000238.3(KCNH2):c.2731_2732dupGG (p.Arg912Alafs) AND Cardiac arrhythmia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 19, 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:
RCV000181990.1

Allele description

NM_000238.3(KCNH2):c.2731_2732dupGG (p.Arg912Alafs)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.3(KCNH2):c.2731_2732dupGG (p.Arg912Alafs)
HGVS:
  • NC_000007.14:g.150947839_150947840dupCC
  • NG_008916.1:g.35087_35088dupGG
  • NM_000238.3:c.2731_2732dupGG
  • NM_172057.2:c.1711_1712dupGG
  • NP_000229.1:p.Arg912Alafs
  • NP_742054.1:p.Arg572Alafs
  • LRG_288t1:c.2731_2732dupGG
  • LRG_288t3:c.1711_1712dupGG
  • LRG_288:g.35087_35088dupGG
  • LRG_288p1:p.Arg912Alafs
  • LRG_288p3:p.Arg572Alafs
  • NC_000007.13:g.150644927_150644928dupCC
  • NM_000238.2:c.2731_2732dupGG
  • p.R912AfsX63
Links:
dbSNP: rs794728452
NCBI 1000 Genomes Browser:
rs794728452
Molecular consequence:
  • NM_000238.3:c.2731_2732dupGG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiac arrhythmia
Synonyms:
EXTRASYSTOLES
Identifiers:
MedGen: C0003811; OMIM: 115000

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234293GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jun 19, 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, SCV000234293.2

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

Description

p.Arg912AlafsX63: c.2731_2732dupGG in exon 12 of the KCNH2 gene (NM_000238.2). The normal sequence with the bases that are inserted in braces isCGGG{GG}CCGG. The c.2731_2732dupGG mutation in the KCNH2 gene has been reported in association with LQTS (reported as R912fsX973, Shimizu W et al., 2009). This mutation causes a shift in reading frame starting at codon Arginine 912, changing it to an Alanine, and creating a premature stop codon at position 63 of the new reading frame, denoted p.Arg912AlafsX63. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the KCNH2 gene have been reported in association with LQTS. In summary, c.2731_2732dupGG 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: Jul 27, 2017