NM_000218.3(KCNQ1):c.781-19TG[2] AND Cardiac arrhythmia

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 25, 2014
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:: RCV001842462.10

Allele description [Variation Report for NM_000218.3(KCNQ1):c.781-19TG[2]]

NM_000218.3(KCNQ1):c.781-19TG[2]

Gene:

KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

11p15.5

Genomic location:

Preferred name:

NM_000218.3(KCNQ1):c.781-19TG[2]

HGVS:

NC_000011.10:g.2572828GT[2]
NC_000011.9:g.2594057_2594058del
NG_008935.1:g.132838GT[2]
NM_000218.3:c.781-19TG[2]MANE SELECT
NM_001406836.1:c.781-19TG[2]
NM_001406837.1:c.511-19TG[2]
NM_001406838.1:c.478-10608TG[2]
NM_181798.2:c.400-19TG[2]
LRG_287:g.132838GT[2]
NC_000011.9:g.2594057_2594058del
NC_000011.9:g.2594058GT[2]
NC_000011.9:g.2594062_2594063delGT
NM_000218.2:c.781-14_781-13delGT

Links:

dbSNP: rs727503103

NCBI 1000 Genomes Browser:

rs727503103

Molecular consequence:

NM_000218.3:c.781-19TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001406836.1:c.781-19TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001406837.1:c.511-19TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_001406838.1:c.478-10608TG[2] - intron variant - [Sequence Ontology: SO:0001627]
NM_181798.2:c.400-19TG[2] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Cardiac arrhythmia
Synonyms:: Cardiac rhythm disease
Identifiers:: EFO: EFO_0004269; MONDO: MONDO:0007263; MedGen: C0003811; Human Phenotype Ontology: HP:0011675

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000234372	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (Jul 25, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000234372

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(Jul 25, 2014)

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

Details of each submission

From GeneDx, SCV000234372.2

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

Description

The variant is found in LQT,POSTMORTEM panel(s).

#	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

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