rs1085307128
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The NM_031296.3(RAB33B):āc.211C>Gā(p.Arg71Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000685 in 1,460,202 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_031296.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RAB33B | NM_031296.3 | c.211C>G | p.Arg71Gly | missense_variant | 1/2 | ENST00000305626.6 | |
RAB33B | XM_011532299.2 | c.355C>G | p.Arg119Gly | missense_variant | 2/3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RAB33B | ENST00000305626.6 | c.211C>G | p.Arg71Gly | missense_variant | 1/2 | 1 | NM_031296.3 | P1 | |
RAB33B | ENST00000652268.1 | c.355C>G | p.Arg119Gly | missense_variant | 2/3 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249282Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135082
GnomAD4 exome AF: 6.85e-7 AC: 1AN: 1460202Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 726538
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at