10-6221469-C-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_004566.4(PFKFB3):c.920C>T(p.Thr307Met) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000397 in 1,613,640 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004566.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000986 AC: 15AN: 152202Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000519 AC: 13AN: 250602Hom.: 0 AF XY: 0.0000516 AC XY: 7AN XY: 135646
GnomAD4 exome AF: 0.0000335 AC: 49AN: 1461438Hom.: 0 Cov.: 33 AF XY: 0.0000385 AC XY: 28AN XY: 727032
GnomAD4 genome AF: 0.0000986 AC: 15AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74352
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.920C>T (p.T307M) alteration is located in exon 9 (coding exon 9) of the PFKFB3 gene. This alteration results from a C to T substitution at nucleotide position 920, causing the threonine (T) at amino acid position 307 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at