NM_001166686.2(PFKM):c.5A>T (p.His2Leu) AND Glycogen storage disease, type VII

Clinical significance:Benign (Last evaluated: Jul 1, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001284933.2

Allele description [Variation Report for NM_001166686.2(PFKM):c.5A>T (p.His2Leu)]

NM_001166686.2(PFKM):c.5A>T (p.His2Leu)

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.5A>T (p.His2Leu)
HGVS:
  • NC_000012.12:g.48107378A>T
  • NG_016199.2:g.7126A>T
  • NM_001166686.2:c.5A>T
  • NM_001354735.1:c.5A>T
  • NM_001354736.1:c.5A>T
  • NM_001354737.1:c.5A>T
  • NM_001354738.1:c.5A>T
  • NM_001354739.1:c.5A>T
  • NM_001354741.1:c.-81+1959A>T
  • NM_001354742.1:c.-9+1959A>T
  • NM_001354743.1:c.-9+1568A>T
  • NM_001354747.1:c.-85+1959A>T
  • NP_001160158.1:p.His2Leu
  • NP_001341664.1:p.His2Leu
  • NP_001341665.1:p.His2Leu
  • NP_001341666.1:p.His2Leu
  • NP_001341667.1:p.His2Leu
  • NP_001341668.1:p.His2Leu
  • LRG_1177:g.7126A>T
  • NC_000012.11:g.48501161A>T
  • NM_000289.5:c.-12037A>T
  • NM_001166686.1:c.5A>T
  • NR_148955.1:n.279A>T
Protein change:
H2L
Links:
dbSNP: rs11609399
NCBI 1000 Genomes Browser:
rs11609399
Molecular consequence:
  • NM_001354741.1:c.-81+1959A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354742.1:c.-9+1959A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354743.1:c.-9+1568A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354747.1:c.-85+1959A>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001166686.2:c.5A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354735.1:c.5A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354736.1:c.5A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354737.1:c.5A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354738.1:c.5A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354739.1:c.5A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148955.1:n.279A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001471032ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Benign
(Aug 31, 2020)
germlineclinical testing

Citation Link,

SCV001750023Pars Genome Labcriteria provided, single submitter
Benign
(Jul 1, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV001471032.1

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

From Pars Genome Lab, SCV001750023.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 14, 2021

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