rs121965007
Variant summary
Our verdict is Pathogenic. Variant got 11 ACMG points: 11P and 0B. PM1PM2PM5PP3_StrongPP5
The NM_000398.7(CYB5R3):āc.173G>Cā(p.Arg58Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000143 in 1,399,314 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 Lovd as Pathogenic (no stars). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R58Q) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000398.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Pathogenic. Variant got 11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYB5R3 | NM_000398.7 | c.173G>C | p.Arg58Pro | missense_variant | 3/9 | ENST00000352397.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYB5R3 | ENST00000352397.10 | c.173G>C | p.Arg58Pro | missense_variant | 3/9 | 1 | NM_000398.7 | P3 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000640 AC: 1AN: 156360Hom.: 0 AF XY: 0.0000122 AC XY: 1AN XY: 82262
GnomAD4 exome AF: 0.0000143 AC: 20AN: 1399314Hom.: 0 Cov.: 32 AF XY: 0.0000145 AC XY: 10AN XY: 690180
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at