NM_024963.6:c.2146C>T
Variant summary
Our verdict is Likely benign. The variant received -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_024963.6(FBXL18):c.2146C>T(p.Leu716Leu) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,461,130 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_024963.6 synonymous
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Likely_benign. The variant received -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
FBXL18 | NM_024963.6 | c.2146C>T | p.Leu716Leu | synonymous_variant | Exon 5 of 5 | ENST00000382368.8 | NP_079239.3 | |
FBXL18 | NM_001367780.1 | c.1846C>T | p.Leu616Leu | synonymous_variant | Exon 5 of 5 | NP_001354709.1 | ||
FBXL18 | NM_001367781.1 | c.1846C>T | p.Leu616Leu | synonymous_variant | Exon 5 of 5 | NP_001354710.1 | ||
FBXL18 | NM_001363441.2 | c.2000+9445C>T | intron_variant | Intron 4 of 4 | NP_001350370.1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD2 exomes AF: 0.00000405 AC: 1AN: 246812 AF XY: 0.00000745 show subpopulations
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1461130Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 726896 show subpopulations ⚠️ The allele balance in gnomAD version 4 Exomes is significantly skewed from the expected value of 0.5.
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at