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

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 27, 2020
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:: RCV001251371.2

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:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001426944	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Jul 27, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 14661677, 22947121, 25649125 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001426944

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Jul 27, 2020)

germline

clinical testing

PubMed (3)
[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

Tox-database.net: a curated resource for data describing chemical triggered in vitro cardiac ion channels inhibition.

Polak S, Wiśniowska B, Glinka A, Polak M.

BMC Pharmacol Toxicol. 2012 Aug 13;13:6. doi: 10.1186/2050-6511-13-6.

PubMed [citation]

PMID:: 22947121
PMCID:: PMC3506270

See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001426944.1

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

Description

Variant summary: KCNQ1 c.889G>A (p.Gly297Ser) results in a non-conservative amino acid change located in the Ion transport domain (IPR005821) of the encoded protein sequence. Three of four in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2e-05 in 250094 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.889G>A in individuals affected with Arrhythmia or experimental evidence demonstrating an impact on protein function has been reported. One ClinVar submitter (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	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: Sep 29, 2024

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