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NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) AND Jervell and Lange-Nielsen syndrome 2

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:
RCV000014418.26

Allele description [Variation Report for NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile)]

NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile)

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.20C>T (p.Thr7Ile)
HGVS:
  • NC_000021.9:g.34449615G>A
  • NG_009091.1:g.66701C>T
  • NM_000219.6:c.20C>TMANE SELECT
  • NM_001127668.4:c.20C>T
  • NM_001127669.4:c.20C>T
  • NM_001127670.4:c.20C>T
  • NM_001270402.3:c.20C>T
  • NM_001270403.2:c.20C>T
  • NM_001270404.3:c.20C>T
  • NM_001270405.3:c.20C>T
  • NP_000210.2:p.Thr7Ile
  • NP_001121140.1:p.Thr7Ile
  • NP_001121141.1:p.Thr7Ile
  • NP_001121142.1:p.Thr7Ile
  • NP_001257331.1:p.Thr7Ile
  • NP_001257332.1:p.Thr7Ile
  • NP_001257333.1:p.Thr7Ile
  • NP_001257334.1:p.Thr7Ile
  • LRG_290t1:c.20C>T
  • LRG_290:g.66701C>T
  • NC_000021.8:g.35821913G>A
  • NM_000219.3:c.20C>T
  • P15382:p.Thr7Ile
Protein change:
T7I; THR7ILE
Links:
UniProtKB: P15382#VAR_008897; OMIM: 176261.0002; dbSNP: rs28933384
NCBI 1000 Genomes Browser:
rs28933384
Molecular consequence:
  • NM_000219.6:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127668.4:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127669.4:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127670.4:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270402.3:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270403.2:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270404.3:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001270405.3:c.20C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Jervell and Lange-Nielsen syndrome 2 (JLNS2)
Identifiers:
MONDO: MONDO:0012871; MedGen: C2676723; Orphanet: 768; Orphanet: 90647; OMIM: 612347

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034667OMIM
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

KCNE1 mutations cause jervell and Lange-Nielsen syndrome.

Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, Rubie C, Hördt M, Towbin JA, Borggrefe M, Assmann G, Qu X, Somberg JC, Breithardt G, Oberti C, Funke H.

Nat Genet. 1997 Nov;17(3):267-8. No abstract available.

PubMed [citation]
PMID:
9354783

Details of each submission

From OMIM, SCV000034667.2

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

Description

In 3 children from a Lebanese family who were affected with Jervell and Lange-Nielsen syndrome (612347), Schulze-Bahr et al. (1997) found compound heterozygosity for mutations in the KCNE1 gene: a thr7-to-ile substitution from a 20C-T transition inherited from the father, and an asp76-to-asn substitution from a 226G-A transition inherited from the mother (176261.0003). The parents and 3 other sibs were heterozygous for one or the other mutation and were unaffected. These mutations were absent from 100 healthy unrelated individuals of the general population. The allele inherited from the father also included a gly38-to-ser polymorphism shown previously not to cause JLNS or LQT.

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

Last Updated: Oct 29, 2022