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NM_000218.3(KCNQ1):c.1524del (p.Glu508fs) AND Long QT syndrome 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 12, 2017
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:
RCV000714903.5

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1524del (p.Glu508fs)]

NM_000218.3(KCNQ1):c.1524del (p.Glu508fs)

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.1524del (p.Glu508fs)
HGVS:
  • NC_000011.10:g.2768853del
  • NG_008935.1:g.328863del
  • NM_000218.3:c.1524delMANE SELECT
  • NM_001406836.1:c.1428delA
  • NM_001406837.1:c.1254delA
  • NM_001406838.1:c.984delA
  • NM_181798.2:c.1143delA
  • NP_000209.2:p.Glu508Aspfs
  • NP_000209.2:p.Glu508fs
  • NP_001393765.1:p.Glu476Aspfs
  • NP_001393766.1:p.Glu418Aspfs
  • NP_001393767.1:p.Glu328Aspfs
  • NP_861463.1:p.Glu381Aspfs
  • NP_861463.1:p.Glu381fs
  • LRG_287t1:c.1524del
  • LRG_287t2:c.1143del
  • LRG_287:g.328863del
  • LRG_287p1:p.Glu508Aspfs
  • LRG_287p2:p.Glu381fs
  • NC_000011.9:g.2790083del
  • NM_000218.2:c.1524delA
  • NM_000218.2:c.1524delA
  • NM_181798.1:c.1143del
  • NR_040711.2:n.1417delA
Protein change:
E381fs
Links:
dbSNP: rs1564886349
NCBI 1000 Genomes Browser:
rs1564886349
Molecular consequence:
  • NM_000218.3:c.1524del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406836.1:c.1428delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406837.1:c.1254delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001406838.1:c.984delA - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_181798.2:c.1143delA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Long QT syndrome 1 (LQT1)
Identifiers:
MONDO: MONDO:0100316; MedGen: C4551647; Orphanet: 101016; Orphanet: 768; OMIM: 192500

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000845656Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub
criteria provided, single submitter

(RBHT-CGGL ClinVar Assertion Criteria)		Likely pathogenic
(Sep 12, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub, SCV000845656.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

This variant causes a frameshift, and is predicted to cause premature termination. To the best of our knowledge this variant has not been previously reported either in patients or control populations (ExAC database). Truncating variants in a similar region (C-domain) of the protein are known to cause LQTS. This variant is therefore considered to be likely pathogenic

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 28, 2023