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NM_000238.4(KCNH2):c.1502A>G (p.Asp501Gly) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 24, 2012
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:
RCV000181795.1

Allele description

NM_000238.4(KCNH2):c.1502A>G (p.Asp501Gly)

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.1502A>G (p.Asp501Gly)
Other names:
p.D501G:GAC>GGC
HGVS:
  • NC_000007.14:g.150952480T>C
  • NG_008916.1:g.30447A>G
  • NM_000238.4:c.1502A>GMANE SELECT
  • NM_001204798.2:c.482A>G
  • NM_172057.3:c.482A>G
  • NP_000229.1:p.Asp501Gly
  • NP_000229.1:p.Asp501Gly
  • NP_001191727.1:p.Asp161Gly
  • NP_742053.1:p.Asp501Gly
  • NP_742054.1:p.Asp161Gly
  • LRG_288t1:c.1502A>G
  • LRG_288t2:c.1502A>G
  • LRG_288:g.30447A>G
  • LRG_288p1:p.Asp501Gly
  • LRG_288p2:p.Asp501Gly
  • NM_000238.2:c.1502A>G
  • NM_000238.3:c.1502A>G
  • NM_172056.2:c.1502A>G
Protein change:
D161G
Links:
dbSNP: rs199473513
NCBI 1000 Genomes Browser:
rs199473513
Molecular consequence:
  • NM_000238.4:c.1502A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.482A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.482A>G - 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
SCV000234098GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Aug 24, 2012) 		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, SCV000234098.9

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

Description

p.Asp501Gly (GAC>GGC):c.1502 A>G in exon 6 of the KCNH2 gene (NM_000238.2)The Asp501Gly mutation in the KCNH2 gene has been reported previously in association with LQTS (Goldenberg I et al., 2011). In addition, the NHLBI ESP Exome Variant Server reports Asp501Gly was not observed in approximately 6,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Asp501Gly results in a non-conservative amino acid substitution of a negatively charged Aspartic acid with a non-polar Glycine at a residue that is conserved across species. Different mutations at the same codon (Asp501His, Asp501Asn) as well as mutations in a nearby codon (Tyr493Cys, Tyr493Phe, Tyr493Ser) have also been reported in association with LQTS, further supporting the functional importance of this region of the protein.In summary, Asp501Gly 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: May 21, 2022