NM_000238.4(KCNH2):c.1786C>G (p.Pro596Ala) AND Long QT syndrome 2

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 4, 2015
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:: RCV000202321.1

Allele description

NM_000238.4(KCNH2):c.1786C>G (p.Pro596Ala)

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.1786C>G (p.Pro596Ala)

HGVS:

NC_000007.14:g.150951607G>C
NG_008916.1:g.31320C>G
NM_000238.4:c.1786C>GMANE SELECT
NM_001204798.2:c.766C>G
NM_172057.3:c.766C>G
NP_000229.1:p.Pro596Ala
NP_000229.1:p.Pro596Ala
NP_001191727.1:p.Pro256Ala
NP_742053.1:p.Pro596Ala
NP_742054.1:p.Pro256Ala
LRG_288t1:c.1786C>G
LRG_288t2:c.1786C>G
LRG_288:g.31320C>G
LRG_288p1:p.Pro596Ala
LRG_288p2:p.Pro596Ala
NM_000238.3:c.1786C>G
NM_172056.2:c.1786C>G

Protein change:

P256A

Links:

dbSNP: rs863225288

NCBI 1000 Genomes Browser:

rs863225288

Molecular consequence:

NM_000238.4:c.1786C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001204798.2:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_172057.3:c.766C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Long QT syndrome 2 (LQT2)
Synonyms:: LONG QT SYNDROME 2, ACQUIRED, REDUCED SUSCEPTIBILITY TO
Identifiers:: MONDO: MONDO:0013367; MedGen: C3150943; Orphanet: 101016; Orphanet: 768; OMIM: 613688

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000256864	Center of Genomic medicine, Geneva,University Hospital of Geneva - Long QT syndrome	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 4, 2015)	paternal	case-control	PubMed (2) [See all records that cite these PMIDs] 19926013, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000256864

Center of Genomic medicine, Geneva,University Hospital of Geneva - Long QT syndrome

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 4, 2015)

paternal

case-control

PubMed (2)
[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	paternal	yes	2	1	not provided	not provided	not provided	case-control

Citations

PubMed

Genotype-phenotype aspects of type 2 long QT syndrome.

Shimizu W, Moss AJ, Wilde AA, Towbin JA, Ackerman MJ, January CT, Tester DJ, Zareba W, Robinson JL, Qi M, Vincent GM, Kaufman ES, Hofman N, Noda T, Kamakura S, Miyamoto Y, Shah S, Amin V, Goldenberg I, Andrews ML, McNitt S.

J Am Coll Cardiol. 2009 Nov 24;54(22):2052-62. doi: 10.1016/j.jacc.2009.08.028.

PubMed [citation]

PMID:: 19926013
PMCID:: PMC2808400

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center of Genomic medicine, Geneva,University Hospital of Geneva - Long QT syndrome, SCV000256864.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	case-control	PubMed (2)

Description

This variant (Pro596Ala) is also present in the father who has the same pathology (long QT syndrome). This missense variant has never been reported before. However, other variants affecting the same amino acid (proline 596) have been reported by ClinVar as pathogenic: Pro596Arg and Pro596His.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		2	not provided	1	not provided

Last Updated: May 21, 2022

ClinVar

Relating variation to medicine