NM_016203.4(PRKAG2):c.1107-5dup AND Hypertrophic cardiomyopathy

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 23, 2023
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:: RCV004012589.2

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1107-5dup]

NM_016203.4(PRKAG2):c.1107-5dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_016203.4(PRKAG2):c.1107-5dup

HGVS:

NC_000007.14:g.151568849dup
NG_007486.2:g.313385dup
NM_001040633.2:c.975-5dup
NM_001304527.2:c.732-5dup
NM_001304531.2:c.384-5dup
NM_001363698.2:c.735-5dup
NM_001407021.1:c.1107-5dup
NM_001407022.1:c.1104-5dup
NM_001407023.1:c.1104-5dup
NM_001407024.1:c.975-5dup
NM_001407026.1:c.972-5dup
NM_001407027.1:c.972-5dup
NM_001407028.1:c.735-5dup
NM_001407029.1:c.732-5dup
NM_001407030.1:c.819-5dup
NM_001407031.1:c.816-5dup
NM_001407032.1:c.789-5dup
NM_001407033.1:c.783-5dup
NM_001407034.1:c.384-5dup
NM_001407035.1:c.384-5dup
NM_001407036.1:c.381-5dup
NM_001407037.1:c.444-5dup
NM_001407038.1:c.432-5dup
NM_001407039.1:c.381-5dup
NM_001407040.1:c.381-5dup
NM_016203.4:c.1107-5dupMANE SELECT
NM_024429.2:c.384-5dup
LRG_430t1:c.1107-5dup
LRG_430:g.313385dup
NC_000007.13:g.151265935dup

Molecular consequence:

NM_001040633.2:c.975-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001304527.2:c.732-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001304531.2:c.384-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001363698.2:c.735-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407021.1:c.1107-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407022.1:c.1104-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407023.1:c.1104-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407024.1:c.975-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407026.1:c.972-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407027.1:c.972-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407028.1:c.735-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407029.1:c.732-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407030.1:c.819-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407031.1:c.816-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407032.1:c.789-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407033.1:c.783-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407034.1:c.384-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407035.1:c.384-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407036.1:c.381-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407037.1:c.444-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407038.1:c.432-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407039.1:c.381-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001407040.1:c.381-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_016203.4:c.1107-5dup - intron variant - [Sequence Ontology: SO:0001627]
NM_024429.2:c.384-5dup - intron variant - [Sequence Ontology: SO:0001627]

Observations:

Condition(s)

Name:: Hypertrophic cardiomyopathy
Synonyms:: HYPERTROPHIC MYOCARDIOPATHY
Identifiers:: MONDO: MONDO:0005045; MeSH: D002312; MedGen: C0007194; Human Phenotype Ontology: HP:0001639

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XM_063288421 (0)
GEO Profiles
BB769890 RIKEN full-length enriched, B16 F10Y cells Mus musculus cDNA clone G370...
BB769890 RIKEN full-length enriched, B16 F10Y cells Mus musculus cDNA clone G370101L06 3', mRNA sequence
gi|16212423|gnl|dbEST|9875048|dbj|B 90.1|

Nucleotide
Kadsura heteroclita secoisolariciresinol dehydrogenase 21 mRNA, partial cds
Kadsura heteroclita secoisolariciresinol dehydrogenase 21 mRNA, partial cds
gi|1954664267|gb|MT725716.1|

Nucleotide
Coxsackievirus A2 polyprotein gene, complete cds.
Coxsackievirus A2 polyprotein gene, complete cds.
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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004841222	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Oct 23, 2023)	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

SCV004841222

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Oct 23, 2023)

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	1	not provided	not provided	108544	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 All of Us Research Program, National Institutes of Health, SCV004841222.1

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

Description

This variant causes an insertion of 1 nucleotide in intron 10 of the PRKAG2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with PRKAG2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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