20-13785068-G-C
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 2P and 12B. PM2BP4_StrongBP6_Very_Strong
The NM_024120.5(NDUFAF5):c.-1G>C variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000848 in 1,610,454 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 Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000368 AC: 56AN: 152246Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000357 AC: 87AN: 243410Hom.: 0 AF XY: 0.000376 AC XY: 50AN XY: 132818
GnomAD4 exome AF: 0.000898 AC: 1310AN: 1458208Hom.: 1 Cov.: 31 AF XY: 0.000841 AC XY: 610AN XY: 725378
GnomAD4 genome AF: 0.000368 AC: 56AN: 152246Hom.: 0 Cov.: 32 AF XY: 0.000255 AC XY: 19AN XY: 74386
ClinVar
Submissions by phenotype
not provided Benign:2
NDUFAF5: BP4 -
See Variant Classification Assertion Criteria. -
NDUFAF5-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