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NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 2, 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:
RCV002321556.9

Allele description [Variation Report for NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)]

NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)

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.3133C>T (p.Leu1045Phe)
Other names:
p.Leu1045Phe
HGVS:
  • NC_000007.14:g.150947347G>A
  • NG_008916.1:g.35580C>T
  • NM_000238.4:c.3133C>TMANE SELECT
  • NM_172057.3:c.2113C>T
  • NP_000229.1:p.Leu1045Phe
  • NP_000229.1:p.Leu1045Phe
  • NP_742054.1:p.Leu705Phe
  • LRG_288t1:c.3133C>T
  • LRG_288:g.35580C>T
  • LRG_288p1:p.Leu1045Phe
  • NC_000007.13:g.150644435G>A
  • NM_000238.3:c.3133C>T
Protein change:
L1045F
Links:
dbSNP: rs199473025
NCBI 1000 Genomes Browser:
rs199473025
Molecular consequence:
  • NM_000238.4:c.3133C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_172057.3:c.2113C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002608998Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Oct 2, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

[DNA-based diagnostics of long QT syndrome].

Berge KE, Haugaa KH, Anfinsen OG, Früh A, Hallerud M, Jonsrud C, Øyen N, Gjesdal K, Amlie JP, Leren TP.

Tidsskr Nor Laegeforen. 2005 Oct 20;125(20):2783-6. Norwegian.

PubMed [citation]
PMID:
16244680

Sodium-channel blockers might contribute to the prevention of ventricular tachycardia in patients with long QT syndrome type 2: a description of 4 cases.

Ildarova R, Shkolnikova MA, Kharlap M, Bereznitskaya V, Kalinin L.

J Electrocardiol. 2012 May-Jun;45(3):237-43. doi: 10.1016/j.jelectrocard.2012.01.008. Epub 2012 Mar 7.

PubMed [citation]
PMID:
22402334

Details of each submission

From Ambry Genetics, SCV002608998.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024