12-48108360-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_001354735.1(PFKM):c.205+166G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0232 in 152,064 control chromosomes in the GnomAD database, including 61 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Genomes: 𝑓 0.023 ( 61 hom., cov: 32)
Consequence
PFKM
NM_001354735.1 intron
NM_001354735.1 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: 0.473
Genes affected
PFKM (HGNC:8877): (phosphofructokinase, muscle) Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Tetramer composition varies depending on tissue type. This gene encodes the muscle-type isozyme. Mutations in this gene have been associated with glycogen storage disease type VII, also known as Tarui disease. Alternatively spliced transcript variants have been described.[provided by RefSeq, Nov 2009]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.8).
BP6
?
Variant 12-48108360-G-A is Benign according to our data. Variant chr12-48108360-G-A is described in ClinVar as [Likely_benign]. Clinvar id is 1201899.Status of the report is criteria_provided_single_submitter, 1 stars.
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0232 (3531/152064) while in subpopulation NFE AF= 0.0349 (2374/67996). AF 95% confidence interval is 0.0337. There are 61 homozygotes in gnomad4. There are 1703 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High Homozygotes in GnomAd at 61 AR gene
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PFKM | NM_001166686.2 | c.205+166G>A | intron_variant | ||||
PFKM | NM_001354735.1 | c.205+166G>A | intron_variant | ||||
PFKM | NM_001354736.1 | c.205+166G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PFKM | ENST00000340802.12 | c.205+166G>A | intron_variant | 2 | |||||
PFKM | ENST00000546755.5 | c.205+166G>A | intron_variant | 4 | |||||
PFKM | ENST00000548288.5 | c.205+166G>A | intron_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.0232 AC: 3530AN: 151946Hom.: 61 Cov.: 32
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GnomAD4 genome ? AF: 0.0232 AC: 3531AN: 152064Hom.: 61 Cov.: 32 AF XY: 0.0229 AC XY: 1703AN XY: 74354
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ClinVar
Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Sep 07, 2019 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
Cadd
Benign
Dann
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at