U.S. flag

An official website of the United States government

NM_016203.4(PRKAG2):c.355C>T (p.Arg119Ter) AND Lethal congenital glycogen storage disease of heart

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 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:
RCV003617924.2

Allele description [Variation Report for NM_016203.4(PRKAG2):c.355C>T (p.Arg119Ter)]

NM_016203.4(PRKAG2):c.355C>T (p.Arg119Ter)

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.355C>T (p.Arg119Ter)
HGVS:
  • NC_000007.14:g.151781263G>A
  • NG_007486.2:g.100969C>T
  • NM_001040633.2:c.223C>T
  • NM_016203.4:c.355C>TMANE SELECT
  • NP_001035723.1:p.Arg75Ter
  • NP_057287.2:p.Arg119Ter
  • LRG_430t1:c.355C>T
  • LRG_430:g.100969C>T
  • LRG_430p1:p.Arg119Ter
  • NC_000007.13:g.151478349G>A
  • NG_007486.1:g.100968C>T
Protein change:
R119*
Links:
dbSNP: rs1177945294
NCBI 1000 Genomes Browser:
rs1177945294
Molecular consequence:
  • NM_001040633.2:c.223C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_016203.4:c.355C>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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004535942Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Apr 22, 2023)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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, SCV004535942.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1171118). This variant has not been reported in the literature in individuals affected with PRKAG2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change creates a premature translational stop signal (p.Arg119*) 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024