16-2433037-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PP3_ModerateBS2_Supporting
The NM_001761.3(CCNF):c.248C>T(p.Pro83Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000048 in 1,458,452 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_001761.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCNF | ENST00000397066.9 | c.248C>T | p.Pro83Leu | missense_variant | Exon 3 of 17 | 1 | NM_001761.3 | ENSP00000380256.4 | ||
CCNF | ENST00000293968.11 | n.171+1753C>T | intron_variant | Intron 2 of 15 | 1 | ENSP00000293968.7 | ||||
CCNF | ENST00000569093.1 | n.281C>T | non_coding_transcript_exon_variant | Exon 3 of 4 | 2 | |||||
ENSG00000285970 | ENST00000648756.1 | n.373-1745G>A | intron_variant | Intron 2 of 2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249364Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134902
GnomAD4 exome AF: 0.00000480 AC: 7AN: 1458452Hom.: 0 Cov.: 30 AF XY: 0.00000552 AC XY: 4AN XY: 724966
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not provided Uncertain:1
Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at