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NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 13, 2022
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:
RCV000254785.6

Allele description [Variation Report for NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)]

NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)

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.1841C>T (p.Ala614Val)
HGVS:
  • NC_000007.14:g.150951552G>A
  • NG_008916.1:g.31375C>T
  • NM_000238.4:c.1841C>TMANE SELECT
  • NM_001204798.2:c.821C>T
  • NM_001406753.1:c.1553C>T
  • NM_001406755.1:c.1664C>T
  • NM_001406756.1:c.1553C>T
  • NM_001406757.1:c.1541C>T
  • NM_172056.3:c.1841C>T
  • NM_172057.3:c.821C>T
  • NP_000229.1:p.Ala614Val
  • NP_000229.1:p.Ala614Val
  • NP_001191727.1:p.Ala274Val
  • NP_001393682.1:p.Ala518Val
  • NP_001393684.1:p.Ala555Val
  • NP_001393685.1:p.Ala518Val
  • NP_001393686.1:p.Ala514Val
  • NP_742053.1:p.Ala614Val
  • NP_742053.1:p.Ala614Val
  • NP_742054.1:p.Ala274Val
  • NP_742054.1:p.Ala274Val
  • LRG_288t1:c.1841C>T
  • LRG_288t2:c.1841C>T
  • LRG_288t3:c.821C>T
  • LRG_288:g.31375C>T
  • LRG_288p1:p.Ala614Val
  • LRG_288p2:p.Ala614Val
  • LRG_288p3:p.Ala274Val
  • NC_000007.13:g.150648640G>A
  • NM_000238.2:c.1841C>T
  • NM_000238.3:c.1841C>T
  • NM_172056.2:c.1841C>T
  • NM_172057.2:c.821C>T
  • NR_176254.1:n.2249C>T
  • NR_176255.1:n.1122C>T
  • Q12809:p.Ala614Val
Protein change:
A274V; ALA614VAL
Links:
UniProtKB: Q12809#VAR_008931; OMIM: 152427.0026; dbSNP: rs199472944
NCBI 1000 Genomes Browser:
rs199472944
Molecular consequence:
  • NM_000238.4:c.1841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.821C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1553C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.1664C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1553C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1541C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.1841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.821C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000321765GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jan 13, 2022) 		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, SCV000321765.7

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Published functional studies demonstrate a damaging effect as this variant exerts a dominant negative effect (Anderson et al., 2006; Sakaguchi et al., 2008; Itzhaki et al., 2011; Jou et al., 2013); Reported in ClinVar as a pathogenic variant (ClinVar Variant ID# 29777); This variant is associated with the following publications: (PMID: 19057127, 22949429, 27555138, 19841300, 19716085, 18441445, 25417810, 18752142, 21703926, 21367833, 19070294, 31557540, 19843919, 23303164, 16432067, 25467552, 21240260, 9544837, 9927399, 9024139, 28316956, 28718902, 23864605, 15840476, 18808722, 15090700, 19996378, 11854117, 10560244, 21295269, 21185501, 10973849, 9693036, 9721698)

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

Last Updated: Sep 29, 2024