rs761136486
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_182971.3(COX8C):c.28G>A(p.Ala10Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000413 in 1,452,498 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A10S) has been classified as Uncertain significance.
Frequency
Consequence
NM_182971.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COX8C | NM_182971.3 | c.28G>A | p.Ala10Thr | missense_variant | Exon 1 of 2 | ENST00000342144.3 | NP_892016.1 | |
UNC79 | NM_020818.5 | c.-351+13773G>A | intron_variant | Intron 1 of 49 | NP_065869.3 | |||
UNC79 | XM_011537027.3 | c.-180+13773G>A | intron_variant | Intron 1 of 51 | XP_011535329.1 | |||
UNC79 | NR_144398.1 | n.325-732G>A | intron_variant | Intron 1 of 1 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000428 AC: 1AN: 233660Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 129114
GnomAD4 exome AF: 0.00000413 AC: 6AN: 1452498Hom.: 0 Cov.: 31 AF XY: 0.00000415 AC XY: 3AN XY: 722838
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at