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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000023443	OMIM	no assertion criteria provided	Pathogenic (Feb 19, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000023443

OMIM

no assertion criteria provided

Pathogenic
(Feb 19, 1999)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Nothing to display

Details of each submission

From OMIM, SCV000023443.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 18, 2024

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