16-1946957-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005061.3(RPL3L):c.830G>A(p.Arg277His) variant causes a missense change. The variant allele was found at a frequency of 0.0000703 in 1,606,916 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. R277C) has been classified as Uncertain significance.
Frequency
Consequence
NM_005061.3 missense
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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RPL3L | NM_005061.3 | c.830G>A | p.Arg277His | missense_variant | 6/10 | ENST00000268661.8 | |
RPL3L | XM_011522571.3 | c.845G>A | p.Arg282His | missense_variant | 6/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPL3L | ENST00000268661.8 | c.830G>A | p.Arg277His | missense_variant | 6/10 | 1 | NM_005061.3 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000722 AC: 11AN: 152254Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000134 AC: 33AN: 246864Hom.: 0 AF XY: 0.000164 AC XY: 22AN XY: 134058
GnomAD4 exome AF: 0.0000701 AC: 102AN: 1454544Hom.: 0 Cov.: 32 AF XY: 0.0000816 AC XY: 59AN XY: 723276
GnomAD4 genome AF: 0.0000722 AC: 11AN: 152372Hom.: 0 Cov.: 34 AF XY: 0.0000403 AC XY: 3AN XY: 74516
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at