5-78984965-C-G
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_000046.5(ARSB):āc.284G>Cā(p.Arg95Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000015 in 1,336,738 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. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R95Q) has been classified as Likely pathogenic.
Frequency
Consequence
NM_000046.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ARSB | NM_000046.5 | c.284G>C | p.Arg95Pro | missense_variant | 1/8 | ENST00000264914.10 | NP_000037.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ARSB | ENST00000264914.10 | c.284G>C | p.Arg95Pro | missense_variant | 1/8 | 1 | NM_000046.5 | ENSP00000264914.4 | ||
ARSB | ENST00000396151.7 | c.284G>C | p.Arg95Pro | missense_variant | 2/8 | 1 | ENSP00000379455.3 | |||
ARSB | ENST00000565165.2 | c.284G>C | p.Arg95Pro | missense_variant | 1/5 | 1 | ENSP00000456339.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000678 AC: 1AN: 147456Hom.: 0 AF XY: 0.0000119 AC XY: 1AN XY: 84196
GnomAD4 exome AF: 0.00000150 AC: 2AN: 1336738Hom.: 0 Cov.: 31 AF XY: 0.00000302 AC XY: 2AN XY: 662560
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at