NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) AND Arrhythmia

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Germline classification:: Benign (1 submission)
Last evaluated:: Mar 19, 2018
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:: RCV000776057.1

Allele description

NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)

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.1343C>G (p.Pro448Arg)

HGVS:

NC_000011.10:g.2588804C>G
NG_008935.1:g.148814C>G
NM_000218.3:c.1343C>GMANE SELECT
NM_181798.1:c.962C>G
NP_000209.2:p.Pro448Arg
NP_000209.2:p.Pro448Arg
NP_861463.1:p.Pro321Arg
LRG_287t1:c.1343C>G
LRG_287t2:c.962C>G
LRG_287:g.148814C>G
LRG_287p1:p.Pro448Arg
LRG_287p2:p.Pro321Arg
NC_000011.9:g.2610034C>G
NM_000218.2:c.1343C>G
P51787:p.Pro448Arg

Protein change:

P321R

Links:

UniProtKB: P51787#VAR_009931; dbSNP: rs12720449

NCBI 1000 Genomes Browser:

rs12720449

Molecular consequence:

NM_000218.3:c.1343C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_181798.1:c.962C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Arrhythmia
Identifiers:: EFO: EFO_0004269; MedGen: C0855329; Human Phenotype Ontology: HP:0011675

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000910692	Color Health, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Mar 19, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000910692

Color Health, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Mar 19, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

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 Color Health, Inc, SCV000910692.1

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

#	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: Feb 26, 2022

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