2-237575083-C-A
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_022449.4(RAB17):c.575G>T(p.Arg192Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000316 in 1,613,788 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R192W) has been classified as Uncertain significance.
Frequency
Consequence
NM_022449.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RAB17 | NM_022449.4 | c.575G>T | p.Arg192Leu | missense_variant | Exon 6 of 6 | ENST00000264601.8 | NP_071894.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152186Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000998 AC: 25AN: 250582Hom.: 0 AF XY: 0.0000738 AC XY: 10AN XY: 135530
GnomAD4 exome AF: 0.0000274 AC: 40AN: 1461484Hom.: 0 Cov.: 32 AF XY: 0.0000234 AC XY: 17AN XY: 727040
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152304Hom.: 0 Cov.: 33 AF XY: 0.0000806 AC XY: 6AN XY: 74472
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.575G>T (p.R192L) alteration is located in exon 6 (coding exon 5) of the RAB17 gene. This alteration results from a G to T substitution at nucleotide position 575, causing the arginine (R) at amino acid position 192 to be replaced by a leucine (L). 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