chr8-96231113-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_006294.5(UQCRB):c.278C>T(p.Pro93Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00000991 in 1,613,718 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. P93P) has been classified as Likely benign.
Frequency
Consequence
NM_006294.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
UQCRB | NM_006294.5 | c.278C>T | p.Pro93Leu | missense_variant | 4/4 | ENST00000287022.10 | |
UQCRB | NM_001254752.2 | c.415C>T | p.Arg139Cys | missense_variant | 5/5 | ||
UQCRB | NM_001199975.3 | c.182C>T | p.Pro61Leu | missense_variant | 5/5 | ||
UQCRB | NR_045639.2 | n.583C>T | non_coding_transcript_exon_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
UQCRB | ENST00000287022.10 | c.278C>T | p.Pro93Leu | missense_variant | 4/4 | 1 | NM_006294.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000132 AC: 2AN: 151962Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000798 AC: 2AN: 250672Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135524
GnomAD4 exome AF: 0.00000958 AC: 14AN: 1461756Hom.: 0 Cov.: 31 AF XY: 0.00000963 AC XY: 7AN XY: 727186
GnomAD4 genome AF: 0.0000132 AC: 2AN: 151962Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74196
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | GeneDx | Mar 11, 2022 | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at