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NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 25, 2014
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:
RCV000181844.2

Allele description [Variation Report for NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val)]

NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val)

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.2246G>T (p.Gly749Val)
Other names:
p.G749V:GGC>GTC
HGVS:
  • NC_000007.14:g.150950320C>A
  • NG_008916.1:g.32607G>T
  • NM_000238.4:c.2246G>TMANE SELECT
  • NM_001204798.2:c.1226G>T
  • NM_001406753.1:c.1958G>T
  • NM_001406755.1:c.2069G>T
  • NM_001406756.1:c.1958G>T
  • NM_001406757.1:c.1946G>T
  • NM_172056.3:c.2246G>T
  • NM_172057.3:c.1226G>T
  • NP_000229.1:p.Gly749Val
  • NP_000229.1:p.Gly749Val
  • NP_001191727.1:p.Gly409Val
  • NP_001393682.1:p.Gly653Val
  • NP_001393684.1:p.Gly690Val
  • NP_001393685.1:p.Gly653Val
  • NP_001393686.1:p.Gly649Val
  • NP_742053.1:p.Gly749Val
  • NP_742053.1:p.Gly749Val
  • NP_742054.1:p.Gly409Val
  • NP_742054.1:p.Gly409Val
  • LRG_288t1:c.2246G>T
  • LRG_288t2:c.2246G>T
  • LRG_288t3:c.1226G>T
  • LRG_288:g.32607G>T
  • LRG_288p1:p.Gly749Val
  • LRG_288p2:p.Gly749Val
  • LRG_288p3:p.Gly409Val
  • NC_000007.13:g.150647408C>A
  • NM_000238.2:c.2246G>T
  • NM_000238.3:c.2246G>T
  • NM_172056.2:c.2246G>T
  • NM_172057.2:c.1226G>T
  • NR_176254.1:n.2654G>T
  • NR_176255.1:n.1527G>T
  • Q12809:p.Gly749Val
Protein change:
G409V
Links:
UniProtKB: Q12809#VAR_074873; dbSNP: rs199472989
NCBI 1000 Genomes Browser:
rs199472989
Molecular consequence:
  • NM_000238.4:c.2246G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.1226G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1958G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.2069G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1958G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1946G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.2246G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.1226G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000234147GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Feb 25, 2014) 		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, SCV000234147.9

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

Description

p.Gly749Val (GGC>GTC): c.2246 G>T in exon 9 of the KCNH2 gene (NM_000238.2)The G749V mutation in the KCNH2 gene has been reported previously in association with LQTS. The G749V mutation was reported in one patient with LQTS, and was not detected in >2,600 reference alleles (Kapplinger et al., 2009). Other missense mutations affecting nearby residues (R744P, R752Q) have been reported in association with LQTS, supporting the functional importance of this region of the protein. Furthermore, the G749V mutation was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. In summary, G749V in the KCNH2 gene is interpreted as a disease-causing mutation. The variant is found in LQT panel(s).

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

Last Updated: Dec 24, 2022