7-99679982-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_000777.5(CYP3A5):c.-86G>A variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0116 in 1,181,650 control chromosomes in the GnomAD database, including 119 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_000777.5 5_prime_UTR
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: 0.00942 AC: 1433AN: 152162Hom.: 19 Cov.: 32
GnomAD4 exome AF: 0.0119 AC: 12271AN: 1029370Hom.: 100 Cov.: 14 AF XY: 0.0116 AC XY: 6161AN XY: 530460
GnomAD4 genome AF: 0.00942 AC: 1434AN: 152280Hom.: 19 Cov.: 32 AF XY: 0.0100 AC XY: 748AN XY: 74458
ClinVar
Submissions by phenotype
CYP3A5-related disorder Benign:1
This variant is classified as likely 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