NM_000289.6(PFKM):c.888G>A (p.Leu296=) AND Glycogen storage disease, type VII

Clinical significance:Benign (Last evaluated: Mar 11, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001002422.1

Allele description [Variation Report for NM_000289.6(PFKM):c.888G>A (p.Leu296=)]

NM_000289.6(PFKM):c.888G>A (p.Leu296=)

Gene:
PFKM:phosphofructokinase, muscle [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_000289.6(PFKM):c.888G>A (p.Leu296=)
HGVS:
  • NC_000012.12:g.48135335G>A
  • NG_016199.2:g.35083G>A
  • NM_000289.6:c.888G>AMANE SELECT
  • NM_001166686.2:c.1101G>A
  • NM_001166687.1:c.888G>A
  • NM_001166688.1:c.888G>A
  • NM_001354735.1:c.1197G>A
  • NM_001354736.1:c.1197G>A
  • NM_001354737.1:c.1101G>A
  • NM_001354738.1:c.1101G>A
  • NM_001354739.1:c.1101G>A
  • NM_001354740.1:c.1032G>A
  • NM_001354741.1:c.912G>A
  • NM_001354742.1:c.888G>A
  • NM_001354743.1:c.888G>A
  • NM_001354744.1:c.888G>A
  • NM_001354745.1:c.801G>A
  • NM_001354746.1:c.888G>A
  • NM_001354747.1:c.738G>A
  • NM_001354748.1:c.738G>A
  • NM_001363619.1:c.843+297G>A
  • NP_000280.1:p.Leu296=
  • NP_001160158.1:p.Leu367=
  • NP_001160159.1:p.Leu296=
  • NP_001160160.1:p.Leu296=
  • NP_001341664.1:p.Leu399=
  • NP_001341665.1:p.Leu399=
  • NP_001341666.1:p.Leu367=
  • NP_001341667.1:p.Leu367=
  • NP_001341668.1:p.Leu367=
  • NP_001341669.1:p.Leu344=
  • NP_001341670.1:p.Leu304=
  • NP_001341671.1:p.Leu296=
  • NP_001341672.1:p.Leu296=
  • NP_001341673.1:p.Leu296=
  • NP_001341674.1:p.Leu267=
  • NP_001341675.1:p.Leu296=
  • NP_001341676.1:p.Leu246=
  • NP_001341677.1:p.Leu246=
  • LRG_1177t1:c.888G>A
  • LRG_1177:g.35083G>A
  • LRG_1177p1:p.Leu296=
  • NC_000012.11:g.48529118G>A
  • NR_148954.1:n.1325G>A
  • NR_148955.1:n.1961G>A
  • NR_148956.1:n.1251G>A
  • NR_148957.1:n.1325G>A
  • NR_148958.1:n.1073G>A
  • NR_148959.1:n.999G>A
Links:
dbSNP: rs753083173
NCBI 1000 Genomes Browser:
rs753083173
Molecular consequence:
  • NM_001363619.1:c.843+297G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_148954.1:n.1325G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148955.1:n.1961G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148956.1:n.1251G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148957.1:n.1325G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148958.1:n.1073G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148959.1:n.999G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000289.6:c.888G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001166686.2:c.1101G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001166687.1:c.888G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001166688.1:c.888G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354735.1:c.1197G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354736.1:c.1197G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354737.1:c.1101G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354738.1:c.1101G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354739.1:c.1101G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354740.1:c.1032G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354741.1:c.912G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354742.1:c.888G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354743.1:c.888G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354744.1:c.888G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354745.1:c.801G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354746.1:c.888G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354747.1:c.738G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354748.1:c.738G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001160358ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Mar 11, 2019)
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 ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001160358.1

#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: Jan 25, 2021

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