NM_004462.5:c.100-75_100-46delCACTCCCACTCCCACTCCCACTCCCACTCC
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_004462.5(FDFT1):c.100-75_100-46delCACTCCCACTCCCACTCCCACTCCCACTCC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000898 in 1,514,974 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.000054 ( 0 hom., cov: 0)
Exomes 𝑓: 0.000094 ( 0 hom. )
Consequence
FDFT1
NM_004462.5 intron
NM_004462.5 intron
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.40
Genes affected
FDFT1 (HGNC:3629): (farnesyl-diphosphate farnesyltransferase 1) This gene encodes a membrane-associated enzyme located at a branch point in the mevalonate pathway. The encoded protein is the first specific enzyme in cholesterol biosynthesis, catalyzing the dimerization of two molecules of farnesyl diphosphate in a two-step reaction to form squalene. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 2 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000537 AC: 8AN: 148922Hom.: 0 Cov.: 0
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GnomAD4 exome AF: 0.0000937 AC: 128AN: 1366052Hom.: 0 AF XY: 0.0000773 AC XY: 52AN XY: 672638
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GnomAD4 genome AF: 0.0000537 AC: 8AN: 148922Hom.: 0 Cov.: 0 AF XY: 0.0000138 AC XY: 1AN XY: 72512
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at