U.S. flag

An official website of the United States government

NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 19, 2013
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:
RCV000181849.3

Allele description [Variation Report for NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn)]

NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn)

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.2360T>A (p.Ile787Asn)
Other names:
p.I787N:ATC>AAC
HGVS:
  • NC_000007.14:g.150950206A>T
  • NG_008916.1:g.32721T>A
  • NM_000238.4:c.2360T>AMANE SELECT
  • NM_001204798.2:c.1340T>A
  • NM_001406753.1:c.2072T>A
  • NM_001406755.1:c.2183T>A
  • NM_001406756.1:c.2072T>A
  • NM_001406757.1:c.2060T>A
  • NM_172056.3:c.2360T>A
  • NM_172057.3:c.1340T>A
  • NP_000229.1:p.Ile787Asn
  • NP_000229.1:p.Ile787Asn
  • NP_001191727.1:p.Ile447Asn
  • NP_001393682.1:p.Ile691Asn
  • NP_001393684.1:p.Ile728Asn
  • NP_001393685.1:p.Ile691Asn
  • NP_001393686.1:p.Ile687Asn
  • NP_742053.1:p.Ile787Asn
  • NP_742053.1:p.Ile787Asn
  • NP_742054.1:p.Ile447Asn
  • NP_742054.1:p.Ile447Asn
  • LRG_288t1:c.2360T>A
  • LRG_288t2:c.2360T>A
  • LRG_288t3:c.1340T>A
  • LRG_288:g.32721T>A
  • LRG_288p1:p.Ile787Asn
  • LRG_288p2:p.Ile787Asn
  • LRG_288p3:p.Ile447Asn
  • NC_000007.13:g.150647294A>T
  • NM_000238.2:c.2360T>A
  • NM_000238.3:c.2360T>A
  • NM_172056.2:c.2360T>A
  • NM_172057.2:c.1340T>A
  • NR_176254.1:n.2768T>A
  • NR_176255.1:n.1641T>A
Protein change:
I447N
Links:
dbSNP: rs794728387
NCBI 1000 Genomes Browser:
rs794728387
Molecular consequence:
  • NM_000238.4:c.2360T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.1340T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.2072T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.2183T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.2072T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.2060T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.2360T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.1340T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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
SCV000234152GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(Apr 19, 2013) 		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, SCV000234152.9

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

Description

The Ile787Asn variant in the KCNH2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Ile787Asn results in a semi-conservative amino acid substitution of a non-polar Isoleucine with a polar Asparagine at a position that is well conserved across species. Consequently, in silico analysis predicts Ile787Asn is damaging to the protein structure/function. Mutations in nearby residues (Arg784Trp, Gly785Ala, Glu788Asp, Arg791Trp) have been reported in association with LQTS, further supporting the functional importance of this region of the protein. Furthermore, the Ile787Asn variant 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, Ile787Asn in the KCNH2 gene is a good candidate for 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: Sep 29, 2024