1-54190814-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001031672.4(CYB5RL):c.281G>A(p.Arg94His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000126 in 1,590,242 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001031672.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYB5RL | ENST00000534324.6 | c.281G>A | p.Arg94His | missense_variant | Exon 4 of 8 | 5 | NM_001031672.4 | ENSP00000434343.1 | ||
ENSG00000256407 | ENST00000637610.1 | n.198+4605G>A | intron_variant | Intron 2 of 9 | 5 | ENSP00000490901.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152182Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000142 AC: 3AN: 211756Hom.: 0 AF XY: 0.0000176 AC XY: 2AN XY: 113772
GnomAD4 exome AF: 0.0000111 AC: 16AN: 1438060Hom.: 0 Cov.: 30 AF XY: 0.0000112 AC XY: 8AN XY: 712924
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152182Hom.: 0 Cov.: 33 AF XY: 0.0000135 AC XY: 1AN XY: 74334
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.281G>A (p.R94H) alteration is located in exon 4 (coding exon 2) of the CYB5RL gene. This alteration results from a G to A substitution at nucleotide position 281, causing the arginine (R) at amino acid position 94 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at