NM_001166686.2(PFKM):c.206-3464T>G AND Glycogen storage disease, type VII

Clinical significance:Benign (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000323145.2

Allele description [Variation Report for NM_001166686.2(PFKM):c.206-3464T>G]

NM_001166686.2(PFKM):c.206-3464T>G

Gene:
PFKM:phosphofructokinase, muscle [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001166686.2(PFKM):c.206-3464T>G
HGVS:
  • NC_000012.12:g.48119303T>G
  • NG_016199.2:g.19051T>G
  • NM_001166686.2:c.206-3464T>G
  • NM_001354735.1:c.301+726T>G
  • NM_001354736.1:c.301+726T>G
  • NM_001354737.1:c.206-3464T>G
  • NM_001354738.1:c.206-3464T>G
  • NM_001354739.1:c.206-3464T>G
  • NM_001354740.1:c.-24T>G
  • NM_001354741.2:c.16+726T>G
  • NM_001354742.2:c.-8-3464T>G
  • NM_001354743.2:c.-8-3464T>G
  • NM_001354747.2:c.-84-3464T>G
  • LRG_1177:g.19051T>G
  • NC_000012.11:g.48513086T>G
  • NM_000289.5:c.-112T>G
Links:
dbSNP: rs12306290
NCBI 1000 Genomes Browser:
rs12306290
Molecular consequence:
  • NM_001354740.1:c.-24T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001166686.2:c.206-3464T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354735.1:c.301+726T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354736.1:c.301+726T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354737.1:c.206-3464T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354738.1:c.206-3464T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354739.1:c.206-3464T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354741.2:c.16+726T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354742.2:c.-8-3464T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354743.2:c.-8-3464T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354747.2:c.-84-3464T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Glycogen storage disease, type VII (GSD7)
Synonyms:
GSD VII; Glycogen storage disease type 7; Muscle phosphofructokinase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009295; MedGen: C0017926; Orphanet: 371; OMIM: 232800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000379090Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000379090.2

#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: Sep 29, 2021

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