chr8-11808296-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BA1
The NM_001287749.2(FDFT1):c.-115C>T variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.648 in 1,223,746 control chromosomes in the GnomAD database, including 259,937 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001287749.2 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.581 AC: 88199AN: 151760Hom.: 26964 Cov.: 31
GnomAD4 exome AF: 0.657 AC: 704153AN: 1071868Hom.: 232940 Cov.: 39 AF XY: 0.656 AC XY: 331916AN XY: 506062
GnomAD4 genome AF: 0.581 AC: 88277AN: 151878Hom.: 26997 Cov.: 31 AF XY: 0.587 AC XY: 43538AN XY: 74232
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