16-1947009-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005061.3(RPL3L):āc.778G>Cā(p.Ala260Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000347 in 1,612,060 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. A260T) 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.778G>C | p.Ala260Pro | missense_variant | 6/10 | ENST00000268661.8 | |
RPL3L | XM_011522571.3 | c.793G>C | p.Ala265Pro | missense_variant | 6/10 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPL3L | ENST00000268661.8 | c.778G>C | p.Ala260Pro | missense_variant | 6/10 | 1 | NM_005061.3 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000184 AC: 28AN: 152252Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000361 AC: 9AN: 249134Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135170
GnomAD4 exome AF: 0.0000192 AC: 28AN: 1459690Hom.: 0 Cov.: 33 AF XY: 0.0000165 AC XY: 12AN XY: 726148
GnomAD4 genome ? AF: 0.000184 AC: 28AN: 152370Hom.: 0 Cov.: 34 AF XY: 0.000188 AC XY: 14AN XY: 74504
ClinVar
Submissions by phenotype
not provided Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Dec 01, 2023 | RPL3L: PM2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at