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NM_016203.3(PRKAG2):c.-517G>T AND Lethal congenital glycogen storage disease of heart

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000320365.14

Allele description [Variation Report for NM_016203.3(PRKAG2):c.-517G>T]

NM_016203.3(PRKAG2):c.-517G>T

Genes:
PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]
PRKAG2-AS1:PRKAG2 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q36.1
Genomic location:
Preferred name:
NM_016203.3(PRKAG2):c.-517G>T
HGVS:
  • NC_000007.14:g.151877137C>A
  • NG_007486.2:g.5095G>T
  • NG_179116.1:g.58C>A
  • NM_016203.3:c.-517G>T
  • LRG_430:g.5095G>T
  • NC_000007.13:g.151574222C>A
  • NR_038926.1:n.96C>A
Links:
dbSNP: rs886062107
NCBI 1000 Genomes Browser:
rs886062107
Molecular consequence:
  • NR_038926.1:n.96C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000467724Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

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 Illumina Laboratory Services, Illumina, SCV000467724.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024