NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro) AND Inborn genetic diseases

Clinical significance:Uncertain significance (Last evaluated: May 9, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000624294.1

Allele description [Variation Report for NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro)]

NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro)

Gene:
KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro)
Other names:
p.L693P:CTG>CCG
HGVS:
  • NC_000007.14:g.150950988A>G
  • NG_008916.1:g.31939T>C
  • NM_000238.4:c.2078T>CMANE SELECT
  • NM_001204798.2:c.1058T>C
  • NM_172056.2:c.2078T>C
  • NM_172057.3:c.1058T>C
  • NP_000229.1:p.Leu693Pro
  • NP_000229.1:p.Leu693Pro
  • NP_001191727.1:p.Leu353Pro
  • NP_742053.1:p.Leu693Pro
  • NP_742054.1:p.Leu353Pro
  • LRG_288t1:c.2078T>C
  • LRG_288t2:c.2078T>C
  • LRG_288:g.31939T>C
  • LRG_288p1:p.Leu693Pro
  • LRG_288p2:p.Leu693Pro
  • NC_000007.13:g.150648076A>G
  • NM_000238.2:c.2078T>C
  • NM_000238.3:c.2078T>C
  • Q12809:p.Leu693Pro
Protein change:
L353P
Links:
UniProtKB: Q12809#VAR_074869; dbSNP: rs199472983
NCBI 1000 Genomes Browser:
rs199472983
Molecular consequence:
  • NM_000238.4:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001204798.2:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172056.2:c.2078T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.1058T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742444Ambry Geneticscriteria provided, single submitter
Uncertain significance
(May 9, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes1not providednot provided1not providedclinical testing

Citations

PubMed

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Kapplinger JD, Tester DJ, Salisbury BA, Carr JL, Harris-Kerr C, Pollevick GD, Wilde AA, Ackerman MJ.

Heart Rhythm. 2009 Sep;6(9):1297-303. doi: 10.1016/j.hrthm.2009.05.021. Epub 2009 Jun 23.

PubMed [citation]
PMID:
19716085
PMCID:
PMC3049907

Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Anderson CL, Kuzmicki CE, Childs RR, Hintz CJ, Delisle BP, January CT.

Nat Commun. 2014 Nov 24;5:5535. doi: 10.1038/ncomms6535.

PubMed [citation]
PMID:
25417810
PMCID:
PMC4243539

Details of each submission

From Ambry Genetics, SCV000742444.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Dec 4, 2021

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