20-13785043-G-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_024120.5(NDUFAF5):c.-26G>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 0.0000476 in 1,597,638 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_024120.5 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152244Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000920 AC: 21AN: 228278Hom.: 0 AF XY: 0.000120 AC XY: 15AN XY: 125400
GnomAD4 exome AF: 0.0000443 AC: 64AN: 1445276Hom.: 1 Cov.: 30 AF XY: 0.0000709 AC XY: 51AN XY: 718872
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152362Hom.: 0 Cov.: 32 AF XY: 0.000121 AC XY: 9AN XY: 74502
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at