NM_016203.4(PRKAG2):c.*1021_*1022delinsGT AND Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome

NM_016203.4(PRKAG2):c.1021_1022delinsGT AND Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000333663.13

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1021_1022delinsGT]

NM_016203.4(PRKAG2):c.1021_1022delinsGT

Gene:

PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_016203.4(PRKAG2):c.*1021_*1022delinsGT

HGVS:

NC_000007.14:g.151556179_151556180delinsAC
NG_007486.2:g.326052_326053delinsGT
NM_001040633.2:c.*1021_*1022delinsGT
NM_001304527.2:c.*1021_*1022delinsGT
NM_001304531.2:c.*1021_*1022delinsGT
NM_001363698.2:c.*1021_*1022delinsGT
NM_016203.4:c.*1021_*1022delinsGTMANE SELECT
NM_024429.2:c.*1021_*1022delinsGT
LRG_430t1:c.*1021_*1022delinsGT
LRG_430:g.326052_326053delinsGT
NC_000007.13:g.151253265_151253266delinsAC
NG_007486.1:g.326051_326052delinsGT
NM_016203.3:c.*1021_*1022delTGinsGT

Links:

dbSNP: rs886062094

NCBI 1000 Genomes Browser:

rs886062094

Molecular consequence:

NM_001040633.2:c.*1021_*1022delinsGT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001304527.2:c.*1021_*1022delinsGT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001304531.2:c.*1021_*1022delinsGT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001363698.2:c.*1021_*1022delinsGT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_016203.4:c.*1021_*1022delinsGT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_024429.2:c.*1021_*1022delinsGT - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:: Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
Identifiers:: MedGen: CN239247

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000467558	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000467558

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000467558.2

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

#	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: Nov 3, 2024

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