NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) AND Jervell and Lange-Nielsen syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 19, 1999
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:
RCV000003285.7

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)]

NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)

Genes:
KCNQ1-AS1:KCNQ1 antisense RNA 1 [Gene - HGNC]
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11p15.4
Genomic location:
Preferred name:
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
HGVS:
  • NC_000011.10:g.2847864_2847883del
  • NG_008935.1:g.407874_407893del
  • NM_000218.3:c.1892_1911delMANE SELECT
  • NM_001406836.1:c.1796_1815del20
  • NM_001406837.1:c.1622_1641del20
  • NM_001406838.1:c.1352_1371del20
  • NM_001406839.1:c.404_423del20
  • NM_181798.2:c.1511_1530del20
  • NP_000209.2:p.Pro631Hisfs
  • NP_000209.2:p.Pro631fs
  • NP_001393765.1:p.Pro599Hisfs
  • NP_001393766.1:p.Pro541Hisfs
  • NP_001393767.1:p.Pro451Hisfs
  • NP_001393768.1:p.Pro135Hisfs
  • NP_861463.1:p.Pro504Hisfs
  • NP_861463.1:p.Pro504fs
  • LRG_287t1:c.1892_1911del
  • LRG_287t2:c.1511_1530del
  • LRG_287:g.407874_407893del
  • LRG_287p2:p.Pro504fs
  • NC_000011.9:g.2869093_2869112del
  • NC_000011.9:g.2869094_2869113del
  • NM_000218.2:c.1892_1911del
  • NM_000218.2:c.1892_1911del20
  • NM_000218.2:c.1892_1911delCCAGAGAGGGCGGGGCCCAC
  • NM_181798.1:c.1511_1530del
  • NR_040711.2:n.1785_1804del20
  • p.P631HfsX14
Protein change:
P504fs
Links:
OMIM: 607542.0026; dbSNP: rs397508103
NCBI 1000 Genomes Browser:
rs397508103
Molecular consequence:
  • NM_000218.3:c.1892_1911del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406836.1:c.1796_1815del20 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406837.1:c.1622_1641del20 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406838.1:c.1352_1371del20 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406839.1:c.404_423del20 - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181798.2:c.1511_1530del20 - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Jervell and Lange-Nielsen syndrome 1 (JLNS1)
Synonyms:
Deafness, congenital, and functional heart disease; Prolonged QT interval in EKG and sudden death; Cardioauditory syndrome of Jervell and Lange-Nielsen; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024540; MedGen: C4551509; Orphanet: 768; Orphanet: 90647; OMIM: 220400

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
SCV000023443OMIM
no assertion criteria provided
Pathogenic
(Feb 19, 1999) 		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

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

Neyroud N, Richard P, Vignier N, Donger C, Denjoy I, Demay L, Shkolnikova M, Pesce R, Chevalier P, Hainque B, Coumel P, Schwartz K, Guicheney P.

Circ Res. 1999 Feb 19;84(3):290-7.

PubMed [citation]
PMID:
10024302

Details of each submission

From OMIM, SCV000023443.3

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

Description

Neyroud et al. (1999) found that a male with Jervell and Lange-Nielsen syndrome (JLNS1; 220400) was compound heterozygous for a frameshift mutation in exon 15 of the KCNQ1 gene and another mutation that was not identified. The frameshift, caused by a 20-bp deletion at nucleotide position 1892, created a premature stop codon 13 amino acids later.

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

Last Updated: Nov 24, 2024