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NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys) AND Short QT syndrome type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 6, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000015518.25

Allele description [Variation Report for NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys)]

NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys)

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.1764C>A (p.Asn588Lys)
Other names:
KCNH2, ASN588LYS, 1764C-A
HGVS:
  • NC_000007.14:g.150951629G>T
  • NG_008916.1:g.31298C>A
  • NM_000238.4:c.1764C>AMANE SELECT
  • NM_001204798.2:c.744C>A
  • NM_001406753.1:c.1476C>A
  • NM_001406755.1:c.1587C>A
  • NM_001406756.1:c.1476C>A
  • NM_001406757.1:c.1464C>A
  • NM_172056.3:c.1764C>A
  • NM_172057.3:c.744C>A
  • NP_000229.1:p.Asn588Lys
  • NP_000229.1:p.Asn588Lys
  • NP_001191727.1:p.Asn248Lys
  • NP_001393682.1:p.Asn492Lys
  • NP_001393684.1:p.Asn529Lys
  • NP_001393685.1:p.Asn492Lys
  • NP_001393686.1:p.Asn488Lys
  • NP_742053.1:p.Asn588Lys
  • NP_742053.1:p.Asn588Lys
  • NP_742054.1:p.Asn248Lys
  • NP_742054.1:p.Asn248Lys
  • LRG_288t1:c.1764C>A
  • LRG_288t2:c.1764C>A
  • LRG_288t3:c.744C>A
  • LRG_288:g.31298C>A
  • LRG_288p1:p.Asn588Lys
  • LRG_288p2:p.Asn588Lys
  • LRG_288p3:p.Asn248Lys
  • NC_000007.13:g.150648717G>T
  • NM_000238.3:c.1764C>A
  • NM_172056.2:c.1764C>A
  • NM_172057.2:c.744C>A
  • NR_176254.1:n.2172C>A
  • NR_176255.1:n.1045C>A
  • Q12809:p.Asn588Lys
Protein change:
N248K; ASN588LYS
Links:
UniProtKB: Q12809#VAR_023840; OMIM: 152427.0018; dbSNP: rs104894021
NCBI 1000 Genomes Browser:
rs104894021
Molecular consequence:
  • NM_000238.4:c.1764C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.744C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406753.1:c.1476C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406755.1:c.1587C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406756.1:c.1476C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406757.1:c.1464C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.3:c.1764C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.744C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short QT syndrome type 1
Identifiers:
MONDO: MONDO:0012312; MedGen: C1865020; Orphanet: 51083; OMIM: 609620

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035783OMIM
no assertion criteria provided
Pathogenic
(Jan 6, 2004) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Short QT Syndrome: a familial cause of sudden death.

Gaita F, Giustetto C, Bianchi F, Wolpert C, Schimpf R, Riccardi R, Grossi S, Richiardi E, Borggrefe M.

Circulation. 2003 Aug 26;108(8):965-70. Epub 2003 Aug 18.

PubMed [citation]
PMID:
12925462

Sudden death associated with short-QT syndrome linked to mutations in HERG.

Brugada R, Hong K, Dumaine R, Cordeiro J, Gaita F, Borggrefe M, Menendez TM, Brugada J, Pollevick GD, Wolpert C, Burashnikov E, Matsuo K, Wu YS, Guerchicoff A, Bianchi F, Giustetto C, Schimpf R, Brugada P, Antzelevitch C.

Circulation. 2004 Jan 6;109(1):30-5. Epub 2003 Dec 15.

PubMed [citation]
PMID:
14676148

Details of each submission

From OMIM, SCV000035783.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 2 families with short QT syndrome-1 (SQT1; 609620), previously reported by Gaita et al. (2003), Brugada et al. (2004) identified respective 1764C-G (152427.0017) and 1764C-A transversions in exon 7 of the KCNH2 gene, leading to the same asn588-to-lys (N588K) substitution in the S5-P loop region of the cardiac I(Kr) channel. The mutation was present in all affected family members and in none of the unaffected individuals.

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

Last Updated: Nov 5, 2022