chr1-54195529-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001031672.4(CYB5RL):c.88G>A(p.Gly30Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000483 in 1,613,602 control chromosomes in the GnomAD database, with no homozygous occurrence. 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYB5RL | ENST00000534324.6 | c.88G>A | p.Gly30Ser | missense_variant | Exon 3 of 8 | 5 | NM_001031672.4 | ENSP00000434343.1 | ||
ENSG00000256407 | ENST00000637610.1 | n.88G>A | non_coding_transcript_exon_variant | Exon 2 of 10 | 5 | ENSP00000490901.1 |
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152138Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000763 AC: 19AN: 249070Hom.: 0 AF XY: 0.0000814 AC XY: 11AN XY: 135112
GnomAD4 exome AF: 0.0000479 AC: 70AN: 1461464Hom.: 0 Cov.: 32 AF XY: 0.0000413 AC XY: 30AN XY: 727016
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152138Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74322
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.88G>A (p.G30S) alteration is located in exon 3 (coding exon 1) of the CYB5RL gene. This alteration results from a G to A substitution at nucleotide position 88, causing the glycine (G) at amino acid position 30 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