chr1-218307433-G-C
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_016052.4(RRP15):c.506G>C(p.Gly169Ala) variant causes a missense, splice region change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_016052.4 missense, splice_region
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RRP15 | NM_016052.4 | c.506G>C | p.Gly169Ala | missense_variant, splice_region_variant | 4/5 | ENST00000366932.4 | |
RRP15 | XM_047421797.1 | c.515G>C | p.Gly172Ala | missense_variant, splice_region_variant | 4/5 | ||
RRP15 | XM_011509597.4 | c.506G>C | p.Gly169Ala | missense_variant, splice_region_variant | 4/5 | ||
RRP15 | XM_047421798.1 | c.515G>C | p.Gly172Ala | missense_variant, splice_region_variant | 4/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RRP15 | ENST00000366932.4 | c.506G>C | p.Gly169Ala | missense_variant, splice_region_variant | 4/5 | 1 | NM_016052.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.