NM_000218.3(KCNQ1):c.889G>A (p.Gly297Ser) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Mar 28, 2019
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:: RCV000057788.6

Allele description [Variation Report for NM_000218.3(KCNQ1):c.889G>A (p.Gly297Ser)]

NM_000218.3(KCNQ1):c.889G>A (p.Gly297Ser)

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.889G>A (p.Gly297Ser)

HGVS:

NC_000011.10:g.2572954G>A
NG_008935.1:g.132964G>A
NM_000218.3:c.889G>AMANE SELECT
NM_001406836.1:c.889G>A
NM_001406837.1:c.619G>A
NM_181798.2:c.508G>A
NP_000209.2:p.Gly297Ser
NP_000209.2:p.Gly297Ser
NP_001393765.1:p.Gly297Ser
NP_001393766.1:p.Gly207Ser
NP_861463.1:p.Gly170Ser
NP_861463.1:p.Gly170Ser
LRG_287t1:c.889G>A
LRG_287t2:c.508G>A
LRG_287:g.132964G>A
LRG_287p1:p.Gly297Ser
LRG_287p2:p.Gly170Ser
NC_000011.9:g.2594184G>A
NM_000218.2:c.889G>A
NM_181798.1:c.508G>A
NR_040711.2:n.782G>A

Protein change:

G170S

Links:

dbSNP: rs34320941

NCBI 1000 Genomes Browser:

rs34320941

Molecular consequence:

NM_000218.3:c.889G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406836.1:c.889G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001406837.1:c.619G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_181798.2:c.508G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

MCE family lipoprotein [Mycobacterium liflandii 128FXT]
MCE family lipoprotein [Mycobacterium liflandii 128FXT]
gi|442585269|gnl|MIUM|MULP_04923|gb 4412.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000089307	Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust	no classification provided	not provided	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 14661677, 19841300, 22581653
SCV001986532	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Mar 28, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000089307

Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust

no classification provided

not provided

germline

literature only

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

SCV001986532

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Mar 28, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

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

Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ.

Circulation. 2009 Nov 3;120(18):1752-60. doi: 10.1161/CIRCULATIONAHA.109.863076. Epub 2009 Oct 19.

PubMed [citation]

PMID:: 19841300
PMCID:: PMC3025752

See all PubMed Citations (3)

Details of each submission

From Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust, SCV000089307.3

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

Description

This variant has been reported in the following publications (PMID:14661677;PMID:19841300).

#	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

From GeneDx, SCV001986532.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Reported in at least one African American individual from a cohort of apparently healthy individuals, although follow-up cardiac evaluations or segregation studies were not described (Ackerman et al., 2003; Kapa et al., 2009; Giudicessi et al., 2012); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19841300, 14661677, 22949429)

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine