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NM_016203.4(PRKAG2):c.1051+3A>G AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 13, 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:
RCV003307544.2

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1051+3A>G]

NM_016203.4(PRKAG2):c.1051+3A>G

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.1051+3A>G
HGVS:
  • NC_000007.14:g.151572661T>C
  • NG_007486.2:g.309571A>G
  • NM_001040633.2:c.919+3A>G
  • NM_001304527.2:c.676+3A>G
  • NM_001304531.2:c.328+3A>G
  • NM_001363698.2:c.679+3A>G
  • NM_016203.4:c.1051+3A>GMANE SELECT
  • NM_024429.2:c.328+3A>G
  • LRG_430t1:c.1051+3A>G
  • LRG_430:g.309571A>G
  • NC_000007.13:g.151269747T>C
  • NG_007486.1:g.309570A>G
  • NM_016203.3:c.1051+3A>G
Links:
dbSNP: rs376499470
NCBI 1000 Genomes Browser:
rs376499470
Molecular consequence:
  • NM_001040633.2:c.919+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304527.2:c.676+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001304531.2:c.328+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001363698.2:c.679+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016203.4:c.1051+3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024429.2:c.328+3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004007674Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 13, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004007674.2

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

Description

The c.1051+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 9 in the PRKAG2 gene. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, 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