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NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter) AND Hypertrophic cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 5, 2024
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:
RCV003996412.2

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)]

NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)

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.1687C>T (p.Gln563Ter)
HGVS:
  • NC_000007.14:g.151557224G>A
  • NG_007486.2:g.325008C>T
  • NM_001040633.2:c.1555C>T
  • NM_001304527.2:c.1312C>T
  • NM_001304531.2:c.964C>T
  • NM_001363698.2:c.1315C>T
  • NM_016203.4:c.1687C>TMANE SELECT
  • NM_024429.2:c.964C>T
  • NP_001035723.1:p.Gln519Ter
  • NP_001291456.1:p.Gln438Ter
  • NP_001291460.1:p.Gln322Ter
  • NP_001350627.1:p.Gln439Ter
  • NP_057287.2:p.Gln563Ter
  • NP_077747.1:p.Gln322Ter
  • LRG_430t1:c.1687C>T
  • LRG_430:g.325008C>T
  • LRG_430p1:p.Gln563Ter
  • NC_000007.13:g.151254310G>A
  • NG_007486.1:g.325007C>T
  • NM_016203.3:c.1687C>T
  • c.1687C>T
  • p.Gln563X
Protein change:
Q322*
Links:
dbSNP: rs397517267
NCBI 1000 Genomes Browser:
rs397517267
Molecular consequence:
  • NM_001040633.2:c.1555C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001304527.2:c.1312C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001304531.2:c.964C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363698.2:c.1315C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_016203.4:c.1687C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_024429.2:c.964C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
3

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004842193All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Feb 5, 2024) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown3not providednot provided108544not providedclinical testing

Citations

PubMed

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, Mazzarotto F, Blair E, Seller A, Taylor JC, Minikel EV, Exome Aggregation Consortium, MacArthur DG, Farrall M, Cook SA, Watkins H.

Genet Med. 2017 Feb;19(2):192-203. doi: 10.1038/gim.2016.90. Epub 2016 Aug 17.

PubMed [citation]
PMID:
27532257
PMCID:
PMC5116235

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, SCV004842193.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (2)

Description

This variant changes 1 nucleotide in exon 16 of the PRKAG2 gene, creating a premature translation stop signal in the last exon. The mutant transcript is expected to escape nonsense-mediated decay and be expressed as a truncated protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy (PMID: 27532257). This variant has been identified in 2/249374 chromosomes 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided3not providednot providednot provided

Last Updated: Sep 29, 2024