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NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) 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:
RCV000045957.2

Allele description

NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg)

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.1085A>G (p.Lys362Arg)
Other names:
p.K362R:AAG>AGG
HGVS:
  • NC_000011.10:g.2585264A>G
  • NG_008935.1:g.145274A>G
  • NM_000218.2:c.1085A>G
  • NM_181798.1:c.704A>G
  • NP_000209.2:p.Lys362Arg
  • NP_861463.1:p.Lys235Arg
  • LRG_287t1:c.1085A>G
  • LRG_287t2:c.704A>G
  • LRG_287:g.145274A>G
  • LRG_287p1:p.Lys362Arg
  • LRG_287p2:p.Lys235Arg
  • NC_000011.9:g.2606494A>G
  • P51787:p.Lys362Arg
Protein change:
K235R
Links:
UniProtKB: P51787#VAR_048025; dbSNP: rs12720458
NCBI 1000 Genomes Browser:
rs12720458
Allele Frequency:
0.00002(G)
Molecular consequence:
  • NM_000218.2:c.1085A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000073970Invitae
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

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ.

Circulation. 2009 Nov 3;120(18):1752-60. doi: 10.1161/CIRCULATIONAHA.109.863076. Epub 2009 Oct 19.

PubMed [citation]
PMID:
19841300
PMCID:
PMC3025752

Details of each submission

From Invitae, SCV000073970.2

#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: Feb 22, 2017