4-39456532-G-A
Variant summary
Our verdict is Likely benign. Variant got -6 ACMG points: 0P and 6B. BP4_ModerateBS2
The NM_000661.5(RPL9):c.265C>T(p.Arg89Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000254 in 1,613,672 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000661.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 152084Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000798 AC: 20AN: 250552Hom.: 0 AF XY: 0.0000590 AC XY: 8AN XY: 135610
GnomAD4 exome AF: 0.0000260 AC: 38AN: 1461470Hom.: 0 Cov.: 32 AF XY: 0.0000234 AC XY: 17AN XY: 727028
GnomAD4 genome AF: 0.0000197 AC: 3AN: 152202Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74440
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.265C>T (p.R89C) alteration is located in exon 4 (coding exon 4) of the RPL9 gene. This alteration results from a C to T substitution at nucleotide position 265, causing the arginine (R) at amino acid position 89 to be replaced by a cysteine (C). 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