10-78054612-G-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_001142285.2(RPS24):c.472G>T(p.Ala158Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000696 in 1,551,586 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_001142285.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RPS24 | ENST00000440692.6 | c.472G>T | p.Ala158Ser | missense_variant | Exon 5 of 5 | 3 | ENSP00000414321.1 | |||
RPS24 | ENST00000476545.6 | n.*219G>T | non_coding_transcript_exon_variant | Exon 6 of 6 | 3 | ENSP00000494169.1 | ||||
RPS24 | ENST00000476545.6 | n.*219G>T | 3_prime_UTR_variant | Exon 6 of 6 | 3 | ENSP00000494169.1 |
Frequencies
GnomAD3 genomes AF: 0.0000591 AC: 9AN: 152220Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000585 AC: 9AN: 153872Hom.: 0 AF XY: 0.0000368 AC XY: 3AN XY: 81612
GnomAD4 exome AF: 0.0000707 AC: 99AN: 1399366Hom.: 0 Cov.: 31 AF XY: 0.0000681 AC XY: 47AN XY: 690204
GnomAD4 genome AF: 0.0000591 AC: 9AN: 152220Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74380
ClinVar
Submissions by phenotype
not specified Benign:1
BS1, BP4; This alteration has an allele frequency that is greater than expected for the associated disease, and is predicted to be tolerated by multiple functional prediction tools. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at