8-11808709-GTCCCACTCCCACTCCCACTCCCACTCCCAC-GTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCACTCCCAC
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 0P and 1B. BP3
The NM_001287750.2(FDFT1):​c.196_231dupCACTCCCACTCCCACTCCCACTCCCACTCCCACTCC​(p.His66_Ser77dup) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: đť‘“ 0.00016 ( 0 hom., cov: 0)
Exomes đť‘“: 0.00010 ( 3 hom. )
Failed GnomAD Quality Control
Consequence
FDFT1
NM_001287750.2 conservative_inframe_insertion
NM_001287750.2 conservative_inframe_insertion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 0.258
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 Likely_benign. Variant got -1 ACMG points.
BP3
Nonframeshift variant in repetitive region in NM_001287750.2
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000161 AC: 24AN: 148922Hom.: 0 Cov.: 0
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GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.000102 AC: 140AN: 1366052Hom.: 3 Cov.: 0 AF XY: 0.000141 AC XY: 95AN XY: 672638
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GnomAD4 genome AF: 0.000161 AC: 24AN: 148922Hom.: 0 Cov.: 0 AF XY: 0.000124 AC XY: 9AN XY: 72512
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ClinVar
Not reported inComputational scores
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Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at