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NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) AND Long QT syndrome 5

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 1997
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:
RCV000014421.26

Allele description [Variation Report for NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)]

NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)

Gene:
KCNE1:potassium voltage-gated channel subfamily E regulatory subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.12
Genomic location:
Preferred name:
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)
HGVS:
  • NC_000021.9:g.34449414G>A
  • NG_009091.1:g.66902C>T
  • NM_000219.6:c.221C>TMANE SELECT
  • NM_001127668.4:c.221C>T
  • NM_001127669.4:c.221C>T
  • NM_001127670.4:c.221C>T
  • NM_001270402.3:c.221C>T
  • NM_001270403.2:c.221C>T
  • NM_001270404.3:c.221C>T
  • NM_001270405.3:c.221C>T
  • NP_000210.2:p.Ser74Leu
  • NP_001121140.1:p.Ser74Leu
  • NP_001121141.1:p.Ser74Leu
  • NP_001121142.1:p.Ser74Leu
  • NP_001257331.1:p.Ser74Leu
  • NP_001257332.1:p.Ser74Leu
  • NP_001257333.1:p.Ser74Leu
  • NP_001257334.1:p.Ser74Leu
  • LRG_290t1:c.221C>T
  • LRG_290:g.66902C>T
  • NC_000021.8:g.35821712G>A
  • NM_000219.3:c.221C>T
  • NM_000219.5:c.221C>T
  • P15382:p.Ser74Leu
Protein change:
S74L; SER74LEU
Links:
UniProtKB: P15382#VAR_008900; OMIM: 176261.0004; dbSNP: rs74315446
NCBI 1000 Genomes Browser:
rs74315446
Molecular consequence:
  • NM_000219.6:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127668.4:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127669.4:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127670.4:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270402.3:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270403.2:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270404.3:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270405.3:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Long QT syndrome 5 (LQT5)
Identifiers:
MONDO: MONDO:0013372; MedGen: C1867904; Orphanet: 101016; Orphanet: 768; OMIM: 613695

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034670OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 1997) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

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

Citations

PubMed

Mutations in the hminK gene cause long QT syndrome and suppress IKs function.

Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT.

Nat Genet. 1997 Nov;17(3):338-40.

PubMed [citation]
PMID:
9354802

Details of each submission

From OMIM, SCV000034670.2

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

Description

In affected members of a family with long QT syndrome-5 (613695), Splawski et al. (1997) identified a C-to-T transition in the second nucleotide of codon 74, leading to a substitution of serine for leucine (S74L).

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

Last Updated: Apr 20, 2024