NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 22, 2023
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:: RCV004791258.1

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]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005409401	Mayo Clinic Laboratories, Mayo Clinic	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 22, 2023)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15176425, 22402334, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005409401

Mayo Clinic Laboratories, Mayo Clinic

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 22, 2023)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

Fodstad H, Swan H, Laitinen P, Piippo K, Paavonen K, Viitasalo M, Toivonen L, Kontula K.

Ann Med. 2004;36 Suppl 1:53-63.

PubMed [citation]

PMID:: 15176425

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

See all PubMed Citations (3)

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV005409401.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

BS1, PP2, PP3

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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