chr18-49490920-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001199356.2(RPL17-C18orf32):c.-26G>A variant causes a 5 prime UTR premature start codon gain change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000316 in 1,613,710 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001199356.2 5_prime_UTR_premature_start_codon_gain
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPL17 | NM_001035006.5 | c.89G>A | p.Arg30His | missense_variant | Exon 4 of 7 | ENST00000580261.6 | NP_001030178.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RPL17 | ENST00000580261.6 | c.89G>A | p.Arg30His | missense_variant | Exon 4 of 7 | 1 | NM_001035006.5 | ENSP00000462385.1 | ||
RPL17-C18orf32 | ENST00000584895.5 | c.89G>A | p.Arg30His | missense_variant | Exon 3 of 7 | 3 | ENSP00000463379.1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152096Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000121 AC: 3AN: 248768Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135036
GnomAD4 exome AF: 0.0000322 AC: 47AN: 1461614Hom.: 0 Cov.: 31 AF XY: 0.0000316 AC XY: 23AN XY: 727082
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152096Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74294
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.89G>A (p.R30H) alteration is located in exon 4 (coding exon 3) of the RPL17 gene. This alteration results from a G to A substitution at nucleotide position 89, causing the arginine (R) at amino acid position 30 to be replaced by a histidine (H). 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