NM_004462.5:c.100-51_100-46delCACTCC
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BA1
The NM_004462.5(FDFT1):c.100-51_100-46delCACTCC variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.933 in 1,514,496 control chromosomes in the GnomAD database, including 660,457 homozygotes. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_004462.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.887 AC: 131994AN: 148834Hom.: 58785 Cov.: 0
GnomAD4 exome AF: 0.938 AC: 1280896AN: 1365550Hom.: 601660 AF XY: 0.939 AC XY: 631346AN XY: 672392
GnomAD4 genome AF: 0.887 AC: 132045AN: 148946Hom.: 58797 Cov.: 0 AF XY: 0.885 AC XY: 64258AN XY: 72586
ClinVar
Submissions by phenotype
FDFT1-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at