chr4-73069476-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate
The NM_001300729.1(COX18):c.284G>A(p.Trp95*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000129 in 1,592,860 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★). Variant results in nonsense mediated mRNA decay.
Frequency
Consequence
NM_001300729.1 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152274Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000389 AC: 8AN: 205654Hom.: 0 AF XY: 0.0000267 AC XY: 3AN XY: 112420
GnomAD4 exome AF: 0.000138 AC: 199AN: 1440586Hom.: 0 Cov.: 31 AF XY: 0.000127 AC XY: 91AN XY: 714806
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152274Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74406
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