chr3-50353329-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001291284.2(CYB561D2):c.254G>A(p.Cys85Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000558 in 1,611,630 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001291284.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYB561D2 | NM_001291284.2 | c.254G>A | p.Cys85Tyr | missense_variant | 4/4 | ENST00000425346.6 | |
LOC127898564 | NR_183066.1 | n.275+1769G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYB561D2 | ENST00000425346.6 | c.254G>A | p.Cys85Tyr | missense_variant | 4/4 | 1 | NM_001291284.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000788 AC: 12AN: 152262Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 250340Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135392
GnomAD4 exome AF: 0.0000534 AC: 78AN: 1459368Hom.: 0 Cov.: 31 AF XY: 0.0000620 AC XY: 45AN XY: 725466
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152262Hom.: 0 Cov.: 33 AF XY: 0.0000403 AC XY: 3AN XY: 74378
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at