1-54179319-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001031672.4(CYB5RL):c.574G>A(p.Gly192Ser) variant causes a missense change. The variant allele was found at a frequency of 0.0000149 in 1,613,664 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 (★).
Frequency
Consequence
NM_001031672.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYB5RL | NM_001031672.4 | c.574G>A | p.Gly192Ser | missense_variant | Exon 7 of 8 | ENST00000534324.6 | NP_001026842.2 | |
CYB5RL | NM_001353353.2 | c.337G>A | p.Gly113Ser | missense_variant | Exon 5 of 6 | NP_001340282.1 | ||
CYB5RL | NM_001353354.2 | c.130G>A | p.Gly44Ser | missense_variant | Exon 6 of 7 | NP_001340283.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYB5RL | ENST00000534324.6 | c.574G>A | p.Gly192Ser | missense_variant | Exon 7 of 8 | 5 | NM_001031672.4 | ENSP00000434343.1 | ||
ENSG00000256407 | ENST00000637610.1 | n.303+4842G>A | intron_variant | Intron 3 of 9 | 5 | ENSP00000490901.1 |
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152188Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000644 AC: 16AN: 248442Hom.: 0 AF XY: 0.0000519 AC XY: 7AN XY: 134838
GnomAD4 exome AF: 0.0000130 AC: 19AN: 1461358Hom.: 0 Cov.: 32 AF XY: 0.00000550 AC XY: 4AN XY: 726964
GnomAD4 genome AF: 0.0000328 AC: 5AN: 152306Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74476
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.574G>A (p.G192S) alteration is located in exon 7 (coding exon 5) of the CYB5RL gene. This alteration results from a G to A substitution at nucleotide position 574, causing the glycine (G) at amino acid position 192 to be replaced by a serine (S). 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