U.S. flag

An official website of the United States government

NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu) AND Long QT syndrome 2

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 2, 2015
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:
RCV000208345.9

Allele description [Variation Report for NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu)]

NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu)

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.1352C>T (p.Pro451Leu)
HGVS:
  • NC_000007.14:g.150952630G>A
  • NG_008916.1:g.30297C>T
  • NM_000238.4:c.1352C>TMANE SELECT
  • NM_001204798.2:c.332C>T
  • NM_001406753.1:c.1064C>T
  • NM_001406755.1:c.1175C>T
  • NM_001406756.1:c.1064C>T
  • NM_001406757.1:c.1052C>T
  • NM_172056.3:c.1352C>T
  • NM_172057.3:c.332C>T
  • NP_000229.1:p.Pro451Leu
  • NP_000229.1:p.Pro451Leu
  • NP_001191727.1:p.Pro111Leu
  • NP_001393682.1:p.Pro355Leu
  • NP_001393684.1:p.Pro392Leu
  • NP_001393685.1:p.Pro355Leu
  • NP_001393686.1:p.Pro351Leu
  • NP_742053.1:p.Pro451Leu
  • NP_742053.1:p.Pro451Leu
  • NP_742054.1:p.Pro111Leu
  • NP_742054.1:p.Pro111Leu
  • LRG_288t1:c.1352C>T
  • LRG_288t2:c.1352C>T
  • LRG_288t3:c.332C>T
  • LRG_288:g.30297C>T
  • LRG_288p1:p.Pro451Leu
  • LRG_288p2:p.Pro451Leu
  • LRG_288p3:p.Pro111Leu
  • NC_000007.13:g.150649718G>A
  • NM_000238.3:c.1352C>T
  • NM_172056.2:c.1352C>T
  • NM_172057.2:c.332C>T
  • NR_176254.1:n.1760C>T
  • NR_176255.1:n.633C>T
  • Q12809:p.Pro451Leu
Protein change:
P111L
Links:
UniProtKB: Q12809#VAR_014373; dbSNP: rs199472902
NCBI 1000 Genomes Browser:
rs199472902
Molecular consequence:
  • NM_000238.4:c.1352C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.332C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1064C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.1175C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1064C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1052C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.1352C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.332C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Long QT syndrome 2 (LQT2)
Identifiers:
MONDO: MONDO:0013367; MedGen: C3150943; Orphanet: 101016; Orphanet: 768; OMIM: 613688

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
SCV000263973Blueprint Genetics
criteria provided, single submitter

(Variant Classification)		Likely pathogenic
(Dec 2, 2015) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PubMed [citation]
PMID:
19716085
PMCID:
PMC3049907

Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.

Laitinen P, Fodstad H, Piippo K, Swan H, Toivonen L, Viitasalo M, Kaprio J, Kontula K.

Hum Mutat. 2000 Jun;15(6):580-1.

PubMed [citation]
PMID:
10862094

Details of each submission

From Blueprint Genetics, SCV000263973.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024