chr19-17863256-T-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_000980.4(RPL18A):āc.524T>Cā(p.Phe175Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000133 in 1,574,576 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. F175I) 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.524T>C | p.Phe175Ser | missense_variant | 5/5 | ENST00000222247.10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPL18A | ENST00000222247.10 | c.524T>C | p.Phe175Ser | missense_variant | 5/5 | 1 | NM_000980.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152108Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000285 AC: 7AN: 245702Hom.: 0 AF XY: 0.0000450 AC XY: 6AN XY: 133440
GnomAD4 exome AF: 0.0000127 AC: 18AN: 1422468Hom.: 0 Cov.: 25 AF XY: 0.00000704 AC XY: 5AN XY: 709734
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152108Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74302
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at