U.S. flag

An official website of the United States government

NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val) AND Cardiac arrhythmia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 20, 2023
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:
RCV001841705.11

Allele description [Variation Report for NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val)]

NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val)

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.2131A>G (p.Ile711Val)
Other names:
p.I711V:ATC>GTC
HGVS:
  • NC_000007.14:g.150950935T>C
  • NG_008916.1:g.31992A>G
  • NM_000238.4:c.2131A>GMANE SELECT
  • NM_001204798.2:c.1111A>G
  • NM_001406753.1:c.1843A>G
  • NM_001406755.1:c.1954A>G
  • NM_001406756.1:c.1843A>G
  • NM_001406757.1:c.1831A>G
  • NM_172056.3:c.2131A>G
  • NM_172057.3:c.1111A>G
  • NP_000229.1:p.Ile711Val
  • NP_000229.1:p.Ile711Val
  • NP_001191727.1:p.Ile371Val
  • NP_001393682.1:p.Ile615Val
  • NP_001393684.1:p.Ile652Val
  • NP_001393685.1:p.Ile615Val
  • NP_001393686.1:p.Ile611Val
  • NP_742053.1:p.Ile711Val
  • NP_742053.1:p.Ile711Val
  • NP_742054.1:p.Ile371Val
  • NP_742054.1:p.Ile371Val
  • LRG_288t1:c.2131A>G
  • LRG_288t2:c.2131A>G
  • LRG_288t3:c.1111A>G
  • LRG_288:g.31992A>G
  • LRG_288p1:p.Ile711Val
  • LRG_288p2:p.Ile711Val
  • LRG_288p3:p.Ile371Val
  • NC_000007.13:g.150648023T>C
  • NM_000238.2:c.2131A>G
  • NM_000238.3:c.2131A>G
  • NM_172056.2:c.2131A>G
  • NM_172057.2:c.1111A>G
  • NR_176254.1:n.2539A>G
  • NR_176255.1:n.1412A>G
  • Q12809:p.Ile711Val
Protein change:
I371V
Links:
UniProtKB: Q12809#VAR_074871; dbSNP: rs199473532
NCBI 1000 Genomes Browser:
rs199473532
Molecular consequence:
  • NM_000238.4:c.2131A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.1954A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1843A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1831A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.2131A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.1111A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiac arrhythmia
Synonyms:
Cardiac rhythm disease
Identifiers:
EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675

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
SCV000913629Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 20, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot 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

Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Anderson CL, Kuzmicki CE, Childs RR, Hintz CJ, Delisle BP, January CT.

Nat Commun. 2014 Nov 24;5:5535. doi: 10.1038/ncomms6535.

PubMed [citation]
PMID:
25417810
PMCID:
PMC4243539
See all PubMed Citations (4)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000913629.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This missense variant replaces isoleucine with valine at codon 711 of the KCNH2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). Functional studies have shown that this variant may affect channel gating (PMID: 25417810, 27807201). This variant has been reported in an individual suspected of having long QT syndrome (PMID: 19716085). This variant has been identified in 9/251380 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Oct 13, 2024