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NM_000238.3(KCNH2):c.453delC (p.Thr152Profs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 25, 2013
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:
RCV000181956.2

Allele description

NM_000238.3(KCNH2):c.453delC (p.Thr152Profs)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.3(KCNH2):c.453delC (p.Thr152Profs)
HGVS:
  • NC_000007.14:g.150959591delG
  • NM_000238.3:c.453delC
  • NP_000229.1:p.Thr152Profs
  • NP_742053.1:p.Thr152Profs
  • LRG_288t1:c.453del
  • LRG_288t2:c.453del
  • LRG_288:g.23336del
  • LRG_288p1:p.Thr152Profs
  • LRG_288p2:p.Thr152Profs
  • NC_000007.13:g.150656679delG
  • NM_000238.2:c.453delC
  • p.T152PfsX14
Links:
dbSNP: rs761863251
NCBI 1000 Genomes Browser:
rs761863251
Molecular consequence:
  • NM_000238.3:c.453delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234259GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jul 25, 2013) 		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, SCV000234259.8

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

Description

The c.453delC mutation in the KCNH2 gene has been reported in multiple individuals with LQTS (Swan H et al., 1999; Laitinen P et al., 2000). This mutation causes a shift in reading frame starting at residue Threonine 152, changing it to a Proline, and creating a premature stop codon at position 14 of the new reading frame, denoted p.Thr152ProfsX14. 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.

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

Last Updated: Mar 31, 2019