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NM_016203.4(PRKAG2):c.755-1G>A AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 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:
RCV004036230.1

Allele description [Variation Report for NM_016203.4(PRKAG2):c.755-1G>A]

NM_016203.4(PRKAG2):c.755-1G>A

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.755-1G>A
HGVS:
  • NC_000007.14:g.151595455C>T
  • NG_007486.2:g.286777G>A
  • NM_001040633.2:c.623-1G>A
  • NM_001304527.2:c.383-4G>A
  • NM_001304531.2:c.32-1G>A
  • NM_001363698.2:c.383-1G>A
  • NM_001407021.1:c.755-1G>A
  • NM_001407022.1:c.755-4G>A
  • NM_001407023.1:c.755-4G>A
  • NM_001407024.1:c.623-1G>A
  • NM_001407026.1:c.623-4G>A
  • NM_001407027.1:c.623-4G>A
  • NM_001407028.1:c.383-1G>A
  • NM_001407029.1:c.383-4G>A
  • NM_001407030.1:c.467-1G>A
  • NM_001407031.1:c.467-4G>A
  • NM_001407032.1:c.437-1G>A
  • NM_001407033.1:c.431-1G>A
  • NM_001407034.1:c.32-1G>A
  • NM_001407035.1:c.32-1G>A
  • NM_001407036.1:c.32-4G>A
  • NM_001407037.1:c.95-4G>A
  • NM_001407038.1:c.83-4G>A
  • NM_001407039.1:c.32-4G>A
  • NM_001407040.1:c.32-4G>A
  • NM_016203.3:c.755-1G>A
  • NM_016203.4:c.755-1G>AMANE SELECT
  • NM_024429.2:c.32-1G>A
  • LRG_430t1:c.755-1G>A
  • LRG_430:g.286777G>A
  • NC_000007.13:g.151292541C>T
Links:
dbSNP: rs778614872
NCBI 1000 Genomes Browser:
rs778614872
Molecular consequence:
  • NM_001304527.2:c.383-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407022.1:c.755-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407023.1:c.755-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407026.1:c.623-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407027.1:c.623-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407029.1:c.383-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407031.1:c.467-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407036.1:c.32-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407037.1:c.95-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407038.1:c.83-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407039.1:c.32-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407040.1:c.32-4G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001040633.2:c.623-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001304531.2:c.32-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001363698.2:c.383-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407021.1:c.755-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407024.1:c.623-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407028.1:c.383-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407030.1:c.467-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407032.1:c.437-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407033.1:c.431-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407034.1:c.32-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001407035.1:c.32-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_016203.4:c.755-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_024429.2:c.32-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005026325Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Feb 1, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005026325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.755-1G>A intronic variant results from a G to A substitution one nucleotide before coding exon 6 of the PRKAG2 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. However, loss of function of PRKAG2 has not been established as a mechanism of disease. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024