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NM_000289.6(PFKM):c.*282C>T

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Apr 27, 2017
Accession:
VCV000883072.1
Variation ID:
883072
Description:
single nucleotide variant
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NM_000289.6(PFKM):c.*282C>T

Allele ID
869914
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.11
Genomic location
12: 48145990 (GRCh38) GRCh38 UCSC
12: 48539773 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.48539773C>T
NC_000012.12:g.48145990C>T
NM_000289.6:c.*282C>T MANE Select 3 prime UTR
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:48145989:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Apr 27, 2017 RCV001113227.1
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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
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease, type VII
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001270983.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 25, 2021