NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) AND Short QT syndrome type 2

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 24, 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:: RCV001104916.12

Allele description [Variation Report for NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His)]

NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His)

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_000218.3(KCNQ1):c.1556G>A (p.Arg519His)

HGVS:

NC_000011.10:g.2768885G>A
NG_008935.1:g.328895G>A
NM_000218.3:c.1556G>AMANE SELECT
NM_001406836.1:c.1460G>A
NM_001406837.1:c.1286G>A
NM_001406838.1:c.1016G>A
NM_181798.2:c.1175G>A
NP_000209.2:p.Arg519His
NP_000209.2:p.Arg519His
NP_001393765.1:p.Arg487His
NP_001393766.1:p.Arg429His
NP_001393767.1:p.Arg339His
NP_861463.1:p.Arg392His
NP_861463.1:p.Arg392His
LRG_287t1:c.1556G>A
LRG_287t2:c.1175G>A
LRG_287:g.328895G>A
LRG_287p1:p.Arg519His
LRG_287p2:p.Arg392His
NC_000011.9:g.2790115G>A
NM_000218.2:c.1556G>A
NM_181798.1:c.1175G>A
NR_040711.2:n.1449G>A

Protein change:

R339H

Links:

dbSNP: rs199472788

NCBI 1000 Genomes Browser:

rs199472788

Molecular consequence:

NM_000218.3:c.1556G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406836.1:c.1460G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406837.1:c.1286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406838.1:c.1016G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181798.2:c.1175G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Short QT syndrome type 2
Identifiers:: MONDO: MONDO:0012313; MedGen: C1865019; Orphanet: 51083; OMIM: 609621

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001261822	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Aug 24, 2017)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 14661677, 17016049, 22581653, 19841300, 26118460, 22947121 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001261822

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Aug 24, 2017)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.

Ackerman MJ, Tester DJ, Jones GS, Will ML, Burrow CR, Curran ME.

Mayo Clin Proc. 2003 Dec;78(12):1479-87.

PubMed [citation]

PMID:: 14661677

The single nucleotide polymorphisms of I(Ks) potassium channel genes and their association with atrial fibrillation in a Chinese population.

Zeng Z, Tan C, Teng S, Chen J, Su S, Zhou X, Wang F, Zhang S, Gu D, Makielski JC, Pu J.

Cardiology. 2007;108(2):97-103. Epub 2006 Sep 29.

PubMed [citation]

PMID:: 17016049

See all PubMed Citations (6)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001261822.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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