NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs) AND Long QT syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 29, 2018
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:: RCV000691481.7

Allele description [Variation Report for NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs)]

NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs)

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.739_748del (p.Thr247fs)

HGVS:

NC_000011.10:g.2572068_2572077del
NC_000011.9:g.2593292_2593301del
NG_008935.1:g.132078_132087del
NM_000218.3:c.739_748delMANE SELECT
NM_001406836.1:c.739_748delACCTGGAGGC
NM_001406837.1:c.469_478delACCTGGAGGC
NM_181798.2:c.358_367delACCTGGAGGC
NP_000209.2:p.Thr247Serfs
NP_000209.2:p.Thr247fs
NP_001393765.1:p.Thr247Serfs
NP_001393766.1:p.Thr157Serfs
NP_861463.1:p.Thr120Serfs
NP_861463.1:p.Thr120fs
LRG_287t1:c.739_748del
LRG_287t2:c.358_367del
LRG_287:g.132078_132087del
LRG_287p2:p.Thr120fs
NC_000011.9:g.2593292_2593301del
NC_000011.9:g.2593292_2593301delGGAGGCACCT
NC_000011.9:g.2593298_2593307del
NM_000218.2:c.739_748del
NM_000218.2:c.739_748delACCTGGAGGC
NM_181798.1:c.358_367del
NR_040711.2:n.632_641delACCTGGAGGC

Protein change:

T120fs

Links:

dbSNP: rs1564820786

NCBI 1000 Genomes Browser:

rs1564820786

Molecular consequence:

NM_000218.3:c.739_748del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406836.1:c.739_748delACCTGGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001406837.1:c.469_478delACCTGGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_181798.2:c.358_367delACCTGGAGGC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Long QT syndrome (LQTS)
Identifiers:: MONDO: MONDO:0002442; MeSH: D008133; MedGen: C0023976

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000819262	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jan 29, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 9323054, 19862833, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000819262

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jan 29, 2018)

germline

clinical testing

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

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

Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

Shalaby FY, Levesque PC, Yang WP, Little WA, Conder ML, Jenkins-West T, Blanar MA.

Circulation. 1997 Sep 16;96(6):1733-6.

PubMed [citation]

PMID:: 9323054

The genetic basis of long QT and short QT syndromes: a mutation update.

Hedley PL, Jørgensen P, Schlamowitz S, Wangari R, Moolman-Smook J, Brink PA, Kanters JK, Corfield VA, Christiansen M.

Hum Mutat. 2009 Nov;30(11):1486-511. doi: 10.1002/humu.21106. Review.

PubMed [citation]

PMID:: 19862833

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000819262.4

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

Description

This variant has not been reported in the literature in individuals with KCNQ1-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 9323054, 19862833). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr247Serfs*13) in the KCNQ1 gene. It is expected to result in an absent or disrupted protein product.

#	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: Sep 29, 2024

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