12-48122681-G-T
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 0P and 18B. BP4_ModerateBP6_Very_StrongBA1
The NM_001166687.2(PFKM):c.-9+4G>T variant causes a splice region, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.199 in 1,591,546 control chromosomes in the GnomAD database, including 33,215 homozygotes. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001166687.2 splice_region, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PFKM | NM_000289.6 | c.-8-86G>T | intron_variant | Intron 1 of 22 | ENST00000359794.11 | NP_000280.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.164 AC: 24995AN: 152124Hom.: 2407 Cov.: 32
GnomAD4 exome AF: 0.203 AC: 291801AN: 1439304Hom.: 30808 Cov.: 32 AF XY: 0.201 AC XY: 143534AN XY: 714316
GnomAD4 genome AF: 0.164 AC: 24990AN: 152242Hom.: 2407 Cov.: 32 AF XY: 0.160 AC XY: 11945AN XY: 74454
ClinVar
Submissions by phenotype
not provided Benign:2
- -
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Glycogen storage disease, type VII Benign:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at