chr19-17863255-T-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_000980.4(RPL18A):c.523T>A(p.Phe175Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000114 in 1,578,846 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. F175S) has been classified as Uncertain significance.
Frequency
Consequence
NM_000980.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RPL18A | NM_000980.4 | c.523T>A | p.Phe175Ile | missense_variant | 5/5 | ENST00000222247.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPL18A | ENST00000222247.10 | c.523T>A | p.Phe175Ile | missense_variant | 5/5 | 1 | NM_000980.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152146Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000244 AC: 6AN: 245670Hom.: 0 AF XY: 0.0000450 AC XY: 6AN XY: 133448
GnomAD4 exome AF: 0.0000105 AC: 15AN: 1426700Hom.: 0 Cov.: 25 AF XY: 0.00000562 AC XY: 4AN XY: 711698
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152146Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74320
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at