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NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile) AND Short QT syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000058015.4

Allele description [Variation Report for NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile)]

NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile)

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.1853C>T (p.Thr618Ile)
HGVS:
  • NC_000007.14:g.150951540G>A
  • NG_008916.1:g.31387C>T
  • NM_000238.4:c.1853C>TMANE SELECT
  • NM_001204798.2:c.833C>T
  • NM_001406753.1:c.1565C>T
  • NM_001406755.1:c.1676C>T
  • NM_001406756.1:c.1565C>T
  • NM_001406757.1:c.1553C>T
  • NM_172056.3:c.1853C>T
  • NM_172057.3:c.833C>T
  • NP_000229.1:p.Thr618Ile
  • NP_000229.1:p.Thr618Ile
  • NP_001191727.1:p.Thr278Ile
  • NP_001393682.1:p.Thr522Ile
  • NP_001393684.1:p.Thr559Ile
  • NP_001393685.1:p.Thr522Ile
  • NP_001393686.1:p.Thr518Ile
  • NP_742053.1:p.Thr618Ile
  • NP_742053.1:p.Thr618Ile
  • NP_742054.1:p.Thr278Ile
  • NP_742054.1:p.Thr278Ile
  • LRG_288t1:c.1853C>T
  • LRG_288t2:c.1853C>T
  • LRG_288t3:c.833C>T
  • LRG_288:g.31387C>T
  • LRG_288p1:p.Thr618Ile
  • LRG_288p2:p.Thr618Ile
  • LRG_288p3:p.Thr278Ile
  • NC_000007.13:g.150648628G>A
  • NM_000238.3:c.1853C>T
  • NM_172056.2:c.1853C>T
  • NM_172057.2:c.833C>T
  • NR_176254.1:n.2261C>T
  • NR_176255.1:n.1134C>T
Protein change:
T278I
Links:
dbSNP: rs199472947
NCBI 1000 Genomes Browser:
rs199472947
Molecular consequence:
  • NM_000238.4:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.833C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1565C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.1676C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1565C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1553C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.1853C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.833C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short QT syndrome
Synonyms:
Familial short QT syndrome
Identifiers:
MONDO: MONDO:0000453; MedGen: C2348199; Orphanet: 51083; OMIM: PS609620

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000089535Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel mutation in the KCNH2 gene associated with short QT syndrome.

Sun Y, Quan XQ, Fromme S, Cox RH, Zhang P, Zhang L, Guo D, Guo J, Patel C, Kowey PR, Yan GX.

J Mol Cell Cardiol. 2011 Mar;50(3):433-41. doi: 10.1016/j.yjmcc.2010.11.017. Epub 2010 Dec 3.

PubMed [citation]
PMID:
21130771

Paralogous annotation of disease-causing variants in long QT syndrome genes.

Ware JS, Walsh R, Cunningham F, Birney E, Cook SA.

Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7.

PubMed [citation]
PMID:
22581653
PMCID:
PMC4640174

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089535.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This variant has been reported as associated with Short QT syndrome in the following publications (PMID:21130771). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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

Last Updated: Sep 29, 2024