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NM_000238.3(KCNH2):c.889C>T (p.Pro297Ser) AND Cardiac arrhythmia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 20, 2014
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:
RCV000181771.1

Allele description

NM_000238.3(KCNH2):c.889C>T (p.Pro297Ser)

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.889C>T (p.Pro297Ser)
HGVS:
  • NC_000007.14:g.150958086G>A
  • NG_008916.1:g.24841C>T
  • NM_000238.3:c.889C>T
  • NM_172056.2:c.889C>T
  • NP_000229.1:p.Pro297Ser
  • NP_742053.1:p.Pro297Ser
  • LRG_288t1:c.889C>T
  • LRG_288t2:c.889C>T
  • LRG_288:g.24841C>T
  • LRG_288p1:p.Pro297Ser
  • LRG_288p2:p.Pro297Ser
  • NC_000007.13:g.150655174G>A
  • NM_000238.2:c.889C>T
  • p.P297S:CCC>TCC
Protein change:
P297S
Links:
dbSNP: rs199472882
NCBI 1000 Genomes Browser:
rs199472882
Molecular consequence:
  • NM_000238.3:c.889C>T - 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
SCV000234074GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 20, 2014) 		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, SCV000234074.2

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

Description

p.Pro297Ser (CCC>TCC): c.889 C>T in exon 4 in the KCNH2 gene (NM_000238.2). The P297S mutation in the KCNH2 gene has been published previously as a disease-causing mutation (Kapa et al., 2009; Goldenberg et al., 2011). Based on the ACMG recommendations, P297S is interpreted as a known pathogenic sequence change. The variant is found in HERG panel(s).

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

Last Updated: Nov 5, 2016