NM_000289.6(PFKM):c.1341+1G>T AND Glycogen storage disease, type VII

Clinical significance:Pathogenic (Last evaluated: Aug 15, 1991)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000001211.3

Allele description [Variation Report for NM_000289.6(PFKM):c.1341+1G>T]

NM_000289.6(PFKM):c.1341+1G>T

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.1341+1G>T
HGVS:
  • NC_000012.12:g.48140872G>T
  • NG_016199.2:g.40620G>T
  • NM_000289.6:c.1341+1G>TMANE SELECT
  • NM_001166686.2:c.1554+1G>T
  • NM_001166687.2:c.1341+1G>T
  • NM_001166688.2:c.1341+1G>T
  • NM_001354735.1:c.1650+1G>T
  • NM_001354736.1:c.1650+1G>T
  • NM_001354737.1:c.1554+1G>T
  • NM_001354738.1:c.1554+1G>T
  • NM_001354739.1:c.1554+1G>T
  • NM_001354740.1:c.1485+1G>T
  • NM_001354741.2:c.1365+1G>T
  • NM_001354742.2:c.1341+1G>T
  • NM_001354743.2:c.1341+1G>T
  • NM_001354744.2:c.1341+1G>T
  • NM_001354745.2:c.1254+1G>T
  • NM_001354746.2:c.1215+1G>T
  • NM_001354747.2:c.1191+1G>T
  • NM_001354748.2:c.1191+1G>T
  • NM_001363619.2:c.1248+1G>T
  • LRG_1177t1:c.1341+1G>T
  • LRG_1177:g.40620G>T
  • NC_000012.11:g.48534655G>T
  • NM_000289.5:c.1341+1G>T
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
IVS15DS, G-T, +1
Links:
OMIM: 610681.0001; dbSNP: rs755419857
NCBI 1000 Genomes Browser:
rs755419857
Molecular consequence:
  • NM_000289.6:c.1341+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001166686.2:c.1554+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001166687.2:c.1341+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001166688.2:c.1341+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354735.1:c.1650+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354736.1:c.1650+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354737.1:c.1554+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354738.1:c.1554+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354739.1:c.1554+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354740.1:c.1485+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354741.2:c.1365+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354742.2:c.1341+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354743.2:c.1341+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354744.2:c.1341+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354745.2:c.1254+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354746.2:c.1215+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354747.2:c.1191+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001354748.2:c.1191+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363619.2:c.1248+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000021361OMIMno assertion criteria providedPathogenic
(Aug 15, 1991)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Nakajima, H. Personal Communication. 1997. Osaka, Japan

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS.

TARUI S, OKUNO G, IKURA Y, TANAKA T, SUDA M, NISHIKAWA M.

Biochem Biophys Res Commun. 1965 May 3;19:517-23. No abstract available.

PubMed [citation]
PMID:
14339001

Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.

Nakajima H, Kono N, Yamasaki T, Hotta K, Kawachi M, Kuwajima M, Noguchi T, Tanaka T, Tarui S.

J Biol Chem. 1990 Jun 5;265(16):9392-5.

PubMed [citation]
PMID:
2140573
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000021361.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

In 1 of the original Japanese patients with glycogen storage disease type VII (GSD7; 232800) reported by Tarui et al. (1965), Nakajima et al. (1990) identified a G-to-T transversion at the 5-prime end of intron 13 of the PFKM gene, resulting in a splice site mutation and a 75-bp (25-residue) in-frame deletion in the 3-prime portion of exon 13. A cryptic splice site located 75 bases upstream from the normal splice site was identified. The mutation was predicted to result in drastic configurational changes in the protein, leading to loss of catalytic activity. Since the parents were consanguineous, Nakajima et al. (1990) assumed that the mutation was homozygous.

Nakajima (1997) noted that at the original publication of this mutation in 1990, only the rabbit gene was sequenced; therefore, the exon numbering followed that of rabbit Pfkm. Later studies by Yamasaki et al. (1991) determined the full genomic structure of the gene and showed that intron 15 is the appropriate numbering for this mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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