6-42883512-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001366481.3(RPL7L1):c.209G>A(p.Arg70Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000913 in 1,609,458 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001366481.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPL7L1 | NM_001366481.3 | c.209G>A | p.Arg70Gln | missense_variant | Exon 3 of 6 | ENST00000493763.7 | NP_001353410.1 | |
RPL7L1 | NM_198486.5 | c.209G>A | p.Arg70Gln | missense_variant | Exon 3 of 7 | NP_940888.3 | ||
RPL7L1 | NR_134562.3 | n.620G>A | non_coding_transcript_exon_variant | Exon 3 of 7 | ||||
RPL7L1 | NR_134563.3 | n.398G>A | non_coding_transcript_exon_variant | Exon 2 of 6 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152150Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000687 AC: 17AN: 247402Hom.: 0 AF XY: 0.0000598 AC XY: 8AN XY: 133824
GnomAD4 exome AF: 0.0000968 AC: 141AN: 1457308Hom.: 0 Cov.: 29 AF XY: 0.0000869 AC XY: 63AN XY: 725002
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152150Hom.: 0 Cov.: 32 AF XY: 0.0000404 AC XY: 3AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.182G>A (p.R61Q) alteration is located in exon 3 (coding exon 3) of the RPL7L1 gene. This alteration results from a G to A substitution at nucleotide position 182, causing the arginine (R) at amino acid position 61 to be replaced by a glutamine (Q). 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