16-18788293-C-A
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Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001019.5(RPS15A):c.134-151G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0688 in 604,128 control chromosomes in the GnomAD database, including 1,805 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Genomes: 𝑓 0.087 ( 695 hom., cov: 32)
Exomes 𝑓: 0.063 ( 1110 hom. )
Consequence
RPS15A
NM_001019.5 intron
NM_001019.5 intron
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.213
Genes affected
RPS15A (HGNC:10389): (ribosomal protein S15a) Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8P family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -14 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.88).
BP6
Variant 16-18788293-C-A is Benign according to our data. Variant chr16-18788293-C-A is described in ClinVar as [Benign]. Clinvar id is 1259635.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.149 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RPS15A | NM_001019.5 | c.134-151G>T | intron_variant | ENST00000322989.8 | |||
RPS15A | NM_001030009.2 | c.134-151G>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPS15A | ENST00000322989.8 | c.134-151G>T | intron_variant | 1 | NM_001019.5 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0870 AC: 13241AN: 152136Hom.: 694 Cov.: 32
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GnomAD4 exome AF: 0.0626 AC: 28296AN: 451874Hom.: 1110 AF XY: 0.0609 AC XY: 14619AN XY: 240214
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GnomAD4 genome AF: 0.0870 AC: 13251AN: 152254Hom.: 695 Cov.: 32 AF XY: 0.0841 AC XY: 6259AN XY: 74456
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ClinVar
Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | May 14, 2021 | - - |
Computational scores
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CADD
Benign
DANN
Benign
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Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at