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NM_000218.2(KCNQ1):c.1032G>C (p.Ala344=) AND Long QT syndrome, LQT1 subtype

Germline classification:
not provided (1 submission)
Last evaluated:
Feb 1, 2013
Review status:
no classification 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:
RCV000045942.2

Allele description

NM_000218.2(KCNQ1):c.1032G>C (p.Ala344=)

Gene:
KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000218.2(KCNQ1):c.1032G>C (p.Ala344=)
Other names:
p.A344A:GCG>GCC
HGVS:
  • NC_000011.10:g.2583545G>C
  • NG_008935.1:g.143555G>C
  • NM_000218.2:c.1032G>C
  • NM_181798.1:c.651G>C
  • NP_000209.2:p.Ala344=
  • NP_861463.1:p.Ala217=
  • LRG_287t1:c.1032G>C
  • LRG_287t2:c.651G>C
  • LRG_287:g.143555G>C
  • LRG_287p1:p.Ala344=
  • LRG_287p2:p.Ala217=
  • NC_000011.9:g.2604775G>C
Links:
dbSNP: rs1800171
NCBI 1000 Genomes Browser:
rs1800171
Molecular consequence:
  • NM_000218.2:c.1032G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Long QT syndrome, LQT1 subtype
Identifiers:
MedGen: CN177655

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000073955Invitae,
no classification provided
not providedgermlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.

Murray A, Donger C, Fenske C, Spillman I, Richard P, Dong YB, Neyroud N, Chevalier P, Denjoy I, Carter N, Syrris P, Afzal AR, Patton MA, Guicheney P, Jeffery S.

Circulation. 1999 Sep 7;100(10):1077-84.

PubMed [citation]
PMID:
10477533

Details of each submission

From Invitae,, SCV000073955.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 7, 2017