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NM_000289.6(PFKM):c.888G>A (p.Leu296=)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 5, 2019)
Last evaluated:
Mar 11, 2019
Accession:
VCV000811928.1
Variation ID:
811928
Description:
single nucleotide variant
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NM_000289.6(PFKM):c.888G>A (p.Leu296=)

Allele ID
799684
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 48135335 (GRCh38) GRCh38 UCSC
12: 48529118 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.12:g.48135335G>A
NC_000012.11:g.48529118G>A
NM_000289.6:c.888G>A MANE Select NP_000280.1:p.Leu296= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:48135334:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Links
dbSNP: rs753083173
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Mar 11, 2019 RCV001002422.1
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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
324 337

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 11, 2019)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease, type VII
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001160358.1
Submitted: (Aug 05, 2019)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs753083173...

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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 Jan 25, 2021