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NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys) AND Glycogen storage disease, type VII

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 1, 1996
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000001218.3

Allele description [Variation Report for NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys)]

NM_000289.6(PFKM):c.2058G>T (p.Trp686Cys)

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.2058G>T (p.Trp686Cys)
HGVS:
  • NC_000012.12:g.48145096G>T
  • NG_016199.2:g.44844G>T
  • NM_000289.6:c.2058G>TMANE SELECT
  • NM_001166686.2:c.2271G>T
  • NM_001166687.2:c.2058G>T
  • NM_001166688.2:c.2058G>T
  • NM_001354735.1:c.2367G>T
  • NM_001354736.1:c.2367G>T
  • NM_001354737.1:c.2271G>T
  • NM_001354738.1:c.2271G>T
  • NM_001354739.1:c.2271G>T
  • NM_001354740.1:c.2202G>T
  • NM_001354741.2:c.2082G>T
  • NM_001354742.2:c.2058G>T
  • NM_001354743.2:c.2058G>T
  • NM_001354744.2:c.2058G>T
  • NM_001354745.2:c.1971G>T
  • NM_001354746.2:c.1932G>T
  • NM_001354747.2:c.1908G>T
  • NM_001354748.2:c.1908G>T
  • NM_001363619.2:c.1965G>T
  • NP_000280.1:p.Trp686Cys
  • NP_001160158.1:p.Trp757Cys
  • NP_001160159.1:p.Trp686Cys
  • NP_001160160.1:p.Trp686Cys
  • NP_001341664.1:p.Trp789Cys
  • NP_001341665.1:p.Trp789Cys
  • NP_001341666.1:p.Trp757Cys
  • NP_001341667.1:p.Trp757Cys
  • NP_001341668.1:p.Trp757Cys
  • NP_001341669.1:p.Trp734Cys
  • NP_001341670.1:p.Trp694Cys
  • NP_001341671.1:p.Trp686Cys
  • NP_001341672.1:p.Trp686Cys
  • NP_001341673.1:p.Trp686Cys
  • NP_001341674.1:p.Trp657Cys
  • NP_001341675.1:p.Trp644Cys
  • NP_001341676.1:p.Trp636Cys
  • NP_001341677.1:p.Trp636Cys
  • NP_001350548.1:p.Trp655Cys
  • LRG_1177t1:c.2058G>T
  • LRG_1177:g.44844G>T
  • LRG_1177p1:p.Trp686Cys
  • NC_000012.11:g.48538879G>T
  • NR_148954.2:n.2361G>T
  • NR_148955.1:n.3131G>T
  • NR_148956.2:n.2287G>T
  • NR_148957.2:n.2516G>T
  • NR_148958.2:n.2264G>T
  • NR_148959.2:n.2190G>T
Protein change:
W636C; TRP686CYS
Links:
OMIM: 610681.0008; dbSNP: rs121918196
NCBI 1000 Genomes Browser:
rs121918196
Molecular consequence:
  • NM_000289.6:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166686.2:c.2271G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166687.2:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166688.2:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354735.1:c.2367G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354736.1:c.2367G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354737.1:c.2271G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354738.1:c.2271G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354739.1:c.2271G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354740.1:c.2202G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354741.2:c.2082G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354742.2:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354743.2:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354744.2:c.2058G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354745.2:c.1971G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354746.2:c.1932G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354747.2:c.1908G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354748.2:c.1908G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363619.2:c.1965G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148954.2:n.2361G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148955.1:n.3131G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148956.2:n.2287G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148957.2:n.2516G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148958.2:n.2264G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148959.2:n.2190G>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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000021368OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 1996) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis.

Nakagawa C, Mineo I, Kaido M, Fujimura H, Shimizu T, Hamaguchi T, Nakajima H, Tarui S.

Muscle Nerve Suppl. 1995;3:S39-44.

PubMed [citation]
PMID:
7603526

Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.

Hamaguchi T, Nakajima H, Noguchi T, Nakagawa C, Kuwajima M, Kono N, Tarui S, Matsuzawa Y.

Hum Mutat. 1996;8(3):273-5. No abstract available.

PubMed [citation]
PMID:
8889589

Details of each submission

From OMIM, SCV000021368.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a 22-year-old Japanese man, born of consanguineous parents, with a mild form of GSD VII (GSD7; 232800), Nakagawa et al. (1995) and Hamaguchi et al. (1996) identified a homozygous 2058G-T transversion in exon 22 of the PFKM gene, resulting in a trp686-to-cys (W686C) substitution. The patient was a 22-year-old man with gastric ulcer, gouty arthritis, and compensated hemolysis. An episodic increase in serum creatine kinase after exercising was detected. Although he did not experience muscle pain or cramps, PFK activity in a skeletal muscle specimen was approximately 1% of normal.

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

Last Updated: Apr 23, 2022