U.S. flag

An official website of the United States government

NM_000238.4(KCNH2):c.2387T>G (p.Val796Gly) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 20, 2017
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:
RCV000620144.5

Allele description [Variation Report for NM_000238.4(KCNH2):c.2387T>G (p.Val796Gly)]

NM_000238.4(KCNH2):c.2387T>G (p.Val796Gly)

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.2387T>G (p.Val796Gly)
HGVS:
  • NC_000007.14:g.150950179A>C
  • NG_008916.1:g.32748T>G
  • NM_000238.4:c.2387T>GMANE SELECT
  • NM_001204798.2:c.1367T>G
  • NM_001406753.1:c.2099T>G
  • NM_001406755.1:c.2210T>G
  • NM_001406756.1:c.2099T>G
  • NM_001406757.1:c.2087T>G
  • NM_172056.3:c.2387T>G
  • NM_172057.3:c.1367T>G
  • NP_000229.1:p.Val796Gly
  • NP_000229.1:p.Val796Gly
  • NP_001191727.1:p.Val456Gly
  • NP_001393682.1:p.Val700Gly
  • NP_001393684.1:p.Val737Gly
  • NP_001393685.1:p.Val700Gly
  • NP_001393686.1:p.Val696Gly
  • NP_742053.1:p.Val796Gly
  • NP_742053.1:p.Val796Gly
  • NP_742054.1:p.Val456Gly
  • NP_742054.1:p.Val456Gly
  • LRG_288t1:c.2387T>G
  • LRG_288t2:c.2387T>G
  • LRG_288t3:c.1367T>G
  • LRG_288:g.32748T>G
  • LRG_288p1:p.Val796Gly
  • LRG_288p2:p.Val796Gly
  • LRG_288p3:p.Val456Gly
  • NC_000007.13:g.150647267A>C
  • NM_000238.3:c.2387T>G
  • NM_172056.2:c.2387T>G
  • NM_172057.2:c.1367T>G
  • NR_176254.1:n.2795T>G
  • NR_176255.1:n.1668T>G
Protein change:
V456G
Links:
dbSNP: rs1554425163
NCBI 1000 Genomes Browser:
rs1554425163
Molecular consequence:
  • NM_000238.4:c.2387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.1367T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.2210T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.2099T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.2087T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.2387T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.1367T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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
SCV000736114Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 20, 2017) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Electrophysiologic substrate in congenital Long QT syndrome: noninvasive mapping with electrocardiographic imaging (ECGI).

Vijayakumar R, Silva JNA, Desouza KA, Abraham RL, Strom M, Sacher F, Van Hare GF, Haïssaguerre M, Roden DM, Rudy Y.

Circulation. 2014 Nov 25;130(22):1936-1943. doi: 10.1161/CIRCULATIONAHA.114.011359. Epub 2014 Oct 7.

PubMed [citation]
PMID:
25294783
PMCID:
PMC4245321

Details of each submission

From Ambry Genetics, SCV000736114.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The p.V796G variant (also known as c.2387T>G), located in coding exon 9 of the KCNH2 gene, results from a T to G substitution at nucleotide position 2387. The valine at codon 796 is replaced by glycine, an amino acid with dissimilar properties. This alteration has been reported in an individual with long QT syndrome (Vijayakumar R et al. Circulation, 2014 Nov;130:1936-1943). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024