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PFKM, IVS5DS, G-A, +1

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Dec 1, 1997
Accession:
VCV000001156.1
Variation ID:
1156
Description:
single nucleotide variant
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PFKM, IVS5DS, G-A, +1

Allele ID
16195
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
12q13.3
Genomic location
-
HGVS
-
Protein change
-
Other names
IVS5DS, G-A, +1
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 610681.0005
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 1, 1997 RCV000001215.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PFKM - - GRCh38
GRCh37
327 340

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 1997)
no assertion criteria provided
Method: literature only
GLYCOGEN STORAGE DISEASE VII
Allele origin: germline
OMIM
Accession: SCV000021365.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (4)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. Ristow M The Journal of clinical investigation 1997 PMID: 9389749
Muscle phosphofructokinase deficiency in two generations. Vorgerd M Journal of the neurological sciences 1996 PMID: 8880699
Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency. Sherman JB American journal of human genetics 1994 PMID: 8037209
A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). Raben N The Journal of biological chemistry 1993 PMID: 8444874

Record last updated Jan 01, 2021