NM_000218.3(KCNQ1):c.919del (p.Val307fs) AND Cardiovascular phenotype

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 12, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002370612.2

Allele description [Variation Report for NM_000218.3(KCNQ1):c.919del (p.Val307fs)]

NM_000218.3(KCNQ1):c.919del (p.Val307fs)

Gene:

KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_000218.3(KCNQ1):c.919del (p.Val307fs)

HGVS:

NC_000011.10:g.2572984del
NG_008935.1:g.132994del
NM_000218.3:c.919delMANE SELECT
NM_001406836.1:c.919delG
NM_001406837.1:c.649delG
NM_181798.2:c.538delG
NP_000209.2:p.Val307Trpfs
NP_000209.2:p.Val307fs
NP_001393765.1:p.Val307Trpfs
NP_001393766.1:p.Val217Trpfs
NP_861463.1:p.Val180Trpfs
NP_861463.1:p.Val180fs
LRG_287t1:c.919del
LRG_287t2:c.538del
LRG_287:g.132994del
LRG_287p1:p.Val307Trpfs
LRG_287p2:p.Val180fs
NC_000011.10:g.2572984delG
NC_000011.9:g.2594209del
NC_000011.9:g.2594214del
NM_000218.2:c.919delG
NM_181798.1:c.538del
NR_040711.2:n.812delG

Protein change:

V180fs

Links:

dbSNP: rs2133733071

NCBI 1000 Genomes Browser:

rs2133733071

Molecular consequence:

NM_000218.3:c.919del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406836.1:c.919delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406837.1:c.649delG - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181798.2:c.538delG - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002687489	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Feb 12, 2019)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24080067, 26669661, 26675252 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002687489

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Feb 12, 2019)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Abnormal electroencephalograms in patients with long QT syndrome.

Haugaa KH, Vestervik TT, Andersson S, Amlie JP, Jørum E, Gjerstad L, Taubøll E.

Heart Rhythm. 2013 Dec;10(12):1877-83. doi: 10.1016/j.hrthm.2013.09.070. Epub 2013 Sep 27.

PubMed [citation]

PMID:: 24080067

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

Itoh H, Berthet M, Fressart V, Denjoy I, Maugenre S, Klug D, Mizusawa Y, Makiyama T, Hofman N, Stallmeyer B, Zumhagen S, Shimizu W, Wilde AA, Schulze-Bahr E, Horie M, Tezenas du Montcel S, Guicheney P.

Eur J Hum Genet. 2016 Aug;24(8):1160-6. doi: 10.1038/ejhg.2015.257. Epub 2015 Dec 16.

PubMed [citation]

PMID:: 26669661
PMCID:: PMC4970673

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV002687489.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The c.919delG pathogenic mutation, located in coding exon 6 of the KCNQ1 gene, results from a deletion of one nucleotide at nucleotide position 919, causing a translational frameshift with a predicted alternate stop codon (p.V307Wfs*47). This alteration has been reported in association with long QT syndrome (LQTS) (Haugaa KH et al. Heart Rhythm, 2013 Dec;10:1877-83; Seethala S et al. J Am Heart Assoc, 2015 Dec;4; Itoh H et al. Eur. J. Hum. Genet., 2016 08;24:1160-6). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Jun 23, 2024

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