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

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Aug 15, 1991
Accession:
VCV000001152.1
Variation ID:
1152
Description:
single nucleotide variant
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NM_000289.6(PFKM):c.1341+1G>T

Allele ID
16191
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 48140872 (GRCh38) GRCh38 UCSC
12: 48534655 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48534655G>T
NC_000012.12:g.48140872G>T
NG_016199.2:g.40620G>T
... more HGVS
Protein change
-
Other names
IVS15DS, G-T, +1
Canonical SPDI
NC_000012.12:48140871:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
OMIM: 610681.0001
dbSNP: rs755419857
VarSome
Comment on variant
ClinGen staff contributed the HGVS expression for this variant.
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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 Aug 15, 1991 RCV000001211.3
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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
(Aug 15, 1991)
no assertion criteria provided
Method: literature only
GLYCOGEN STORAGE DISEASE VII
Allele origin: germline
OMIM
Accession: SCV000021361.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)
Nakajima, H. Personal  (more...)

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
Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. Yamasaki T Gene 1991 PMID: 1833270
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 The Journal of biological chemistry 1990 PMID: 2140573
PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS. TARUI S Biochemical and biophysical research communications 1965 PMID: 14339001
Nakajima, H. Personal Communication. 1997. Osaka, Japan - - - -

Text-mined citations for rs755419857...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021