15-82540075-AG-A
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PVS1_StrongPM2PP5_Moderate
The NM_001021.6(RPS17):c.60delC(p.Tyr21ThrfsTer30) variant causes a frameshift change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. Variant has been reported in ClinVar as Pathogenic (★).
Frequency
Consequence
NM_001021.6 frameshift
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
RPS17 | NM_001021.6 | c.60delC | p.Tyr21ThrfsTer30 | frameshift_variant | Exon 2 of 5 | ENST00000647841.1 | NP_001012.1 | |
RPS17 | NR_111943.2 | n.382delC | non_coding_transcript_exon_variant | Exon 1 of 4 | ||||
RPS17 | NR_111944.3 | n.89delC | non_coding_transcript_exon_variant | Exon 2 of 6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RPS17 | ENST00000647841.1 | c.60delC | p.Tyr21ThrfsTer30 | frameshift_variant | Exon 2 of 5 | NM_001021.6 | ENSP00000498019.1 | |||
ENSG00000260836 | ENST00000562833.2 | c.1407delC | p.Tyr470ThrfsTer30 | frameshift_variant | Exon 10 of 13 | 3 | ENSP00000454786.2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
Diamond-Blackfan anemia Pathogenic:1
The c.60delC pathogenic mutation, located in coding exon 2 of the RPS17 gene, results from a deletion of one nucleotide at nucleotide position 60, causing a translational frameshift with a predicted alternate stop codon (p.Y21Tfs*30). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.