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NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp) AND Congenital long QT syndrome

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000057902.5

Allele description [Variation Report for NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp)]

NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp)

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.1408A>G (p.Asn470Asp)
HGVS:
  • NC_000007.14:g.150952574T>C
  • NG_008916.1:g.30353A>G
  • NM_000238.4:c.1408A>GMANE SELECT
  • NM_001204798.2:c.388A>G
  • NM_001406753.1:c.1120A>G
  • NM_001406755.1:c.1231A>G
  • NM_001406756.1:c.1120A>G
  • NM_001406757.1:c.1108A>G
  • NM_172056.3:c.1408A>G
  • NM_172057.3:c.388A>G
  • NP_000229.1:p.Asn470Asp
  • NP_000229.1:p.Asn470Asp
  • NP_001191727.1:p.Asn130Asp
  • NP_001393682.1:p.Asn374Asp
  • NP_001393684.1:p.Asn411Asp
  • NP_001393685.1:p.Asn374Asp
  • NP_001393686.1:p.Asn370Asp
  • NP_742053.1:p.Asn470Asp
  • NP_742053.1:p.Asn470Asp
  • NP_742054.1:p.Asn130Asp
  • NP_742054.1:p.Asn130Asp
  • LRG_288t1:c.1408A>G
  • LRG_288t2:c.1408A>G
  • LRG_288t3:c.388A>G
  • LRG_288:g.30353A>G
  • LRG_288p1:p.Asn470Asp
  • LRG_288p2:p.Asn470Asp
  • LRG_288p3:p.Asn130Asp
  • NC_000007.13:g.150649662T>C
  • NM_000238.3:c.1408A>G
  • NM_172056.2:c.1408A>G
  • NM_172057.2:c.388A>G
  • NR_176254.1:n.1816A>G
  • NR_176255.1:n.689A>G
  • Q12809:p.Asn470Asp
Protein change:
N130D; ASN470ASP
Links:
UniProtKB: Q12809#VAR_008578; OMIM: 152427.0002; dbSNP: rs121912505
NCBI 1000 Genomes Browser:
rs121912505
Molecular consequence:
  • NM_000238.4:c.1408A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1120A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.1231A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1120A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1108A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.1408A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.388A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000089422Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust
no classification provided
not providedgermlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT.

Cell. 1995 Mar 10;80(5):795-803.

PubMed [citation]
PMID:
7889573

Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.

Anderson CL, Delisle BP, Anson BD, Kilby JA, Will ML, Tester DJ, Gong Q, Zhou Z, Ackerman MJ, January CT.

Circulation. 2006 Jan 24;113(3):365-73.

PubMed [citation]
PMID:
16432067
See all PubMed Citations (3)

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089422.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:7889573;PMID:16432067). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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

Last Updated: Jun 9, 2024