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NM_000238.4(KCNH2):c.138C>G (p.Asp46Glu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 16, 2019
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:
RCV002393410.9

Allele description [Variation Report for NM_000238.4(KCNH2):c.138C>G (p.Asp46Glu)]

NM_000238.4(KCNH2):c.138C>G (p.Asp46Glu)

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.138C>G (p.Asp46Glu)
HGVS:
  • NC_000007.14:g.150974880G>C
  • NG_008916.1:g.8047C>G
  • NM_000238.4:c.138C>GMANE SELECT
  • NM_001406755.1:c.-40C>G
  • NM_172056.3:c.138C>G
  • NP_000229.1:p.Asp46Glu
  • NP_000229.1:p.Asp46Glu
  • NP_742053.1:p.Asp46Glu
  • NP_742053.1:p.Asp46Glu
  • LRG_288t1:c.138C>G
  • LRG_288t2:c.138C>G
  • LRG_288:g.8047C>G
  • LRG_288p1:p.Asp46Glu
  • LRG_288p2:p.Asp46Glu
  • NC_000007.13:g.150671968G>C
  • NC_000007.13:g.150671968G>C
  • NM_000238.3:c.138C>G
  • NM_172056.2:c.138C>G
  • NR_176254.1:n.546C>G
Protein change:
D46E
Links:
dbSNP: rs752503743
NCBI 1000 Genomes Browser:
rs752503743
Molecular consequence:
  • NM_000238.4:c.138C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.138C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002698360Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 16, 2019) 		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

Identification novel LQT syndrome-associated variants in Polish population and genotype-phenotype correlations in eight families.

Szperl M, Kozicka U, Kosiec A, Kukla P, Roszczynko M, Biernacka EK.

J Appl Genet. 2018 Nov;59(4):463-469. doi: 10.1007/s13353-018-0464-3. Epub 2018 Sep 22.

PubMed [citation]
PMID:
30244407

Details of each submission

From Ambry Genetics, SCV002698360.2

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

Description

The p.D46E variant (also known as c.138C>G), located in coding exon 2 of the KCNH2 gene, results from a C to G substitution at nucleotide position 138. The aspartic acid at codon 46 is replaced by glutamic acid, an amino acid with highly similar properties. Another alteration affecting the same amino acid, p.D46Y (c.136G>T), has been reported in association with long QT syndrome (LQTS) (Szperl M et al. J. Appl. Genet., 2018 Nov;59:463-469). This amino acid position is well conserved in available vertebrate species; however, glutamic acid is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: May 1, 2024