NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter) AND Lethal congenital glycogen storage disease of heart

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 22, 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:: RCV003506843.2

Allele description [Variation Report for NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter)]

NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter)

HGVS:

NC_000007.14:g.151576383G>A
NG_007486.2:g.305849C>T
NM_001040633.2:c.802C>T
NM_001304527.2:c.559C>T
NM_001304531.2:c.211C>T
NM_001363698.2:c.562C>T
NM_001407021.1:c.934C>T
NM_001407022.1:c.931C>T
NM_001407023.1:c.931C>T
NM_001407024.1:c.802C>T
NM_001407026.1:c.799C>T
NM_001407027.1:c.799C>T
NM_001407028.1:c.562C>T
NM_001407029.1:c.559C>T
NM_001407030.1:c.646C>T
NM_001407031.1:c.643C>T
NM_001407032.1:c.616C>T
NM_001407033.1:c.610C>T
NM_001407034.1:c.211C>T
NM_001407035.1:c.211C>T
NM_001407036.1:c.208C>T
NM_001407037.1:c.271C>T
NM_001407038.1:c.259C>T
NM_001407039.1:c.208C>T
NM_001407040.1:c.208C>T
NM_016203.4:c.934C>TMANE SELECT
NM_024429.2:c.211C>T
NP_001035723.1:p.Gln268Ter
NP_001291456.1:p.Gln187Ter
NP_001291460.1:p.Gln71Ter
NP_001350627.1:p.Gln188Ter
NP_001393950.1:p.Gln312Ter
NP_001393951.1:p.Gln311Ter
NP_001393952.1:p.Gln311Ter
NP_001393953.1:p.Gln268Ter
NP_001393955.1:p.Gln267Ter
NP_001393956.1:p.Gln267Ter
NP_001393957.1:p.Gln188Ter
NP_001393958.1:p.Gln187Ter
NP_001393959.1:p.Gln216Ter
NP_001393960.1:p.Gln215Ter
NP_001393961.1:p.Gln206Ter
NP_001393962.1:p.Gln204Ter
NP_001393963.1:p.Gln71Ter
NP_001393964.1:p.Gln71Ter
NP_001393965.1:p.Gln70Ter
NP_001393966.1:p.Gln91Ter
NP_001393967.1:p.Gln87Ter
NP_001393968.1:p.Gln70Ter
NP_001393969.1:p.Gln70Ter
NP_057287.2:p.Gln312Ter
NP_077747.1:p.Gln71Ter
LRG_430t1:c.934C>T
LRG_430:g.305849C>T
LRG_430p1:p.Gln312Ter
NC_000007.13:g.151273469G>A

Protein change:

Q187*

Molecular consequence:

NM_001040633.2:c.802C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001304527.2:c.559C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001304531.2:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001363698.2:c.562C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407021.1:c.934C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407022.1:c.931C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407023.1:c.931C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407024.1:c.802C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407026.1:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407027.1:c.799C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407028.1:c.562C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407029.1:c.559C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407030.1:c.646C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407031.1:c.643C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407032.1:c.616C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407033.1:c.610C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407034.1:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407035.1:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407036.1:c.208C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407037.1:c.271C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407038.1:c.259C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407039.1:c.208C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001407040.1:c.208C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_016203.4:c.934C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_024429.2:c.211C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Lethal congenital glycogen storage disease of heart
Synonyms:: GLYCOGEN STORAGE DISEASE OF HEART; PHOSPHORYLASE KINASE DEFICIENCY OF HEART
Identifiers:: MONDO: MONDO:0009867; MedGen: C1849813; Orphanet: 439854; OMIM: 261740

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004307481	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 22, 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

SCV004307481

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 22, 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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004307481.1

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

Description

This sequence change creates a premature translational stop signal (p.Gln312*) in the PRKAG2 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in PRKAG2 cause disease. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been 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	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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