rs9306160
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_015056.3(RRP1B):āc.1307T>Cā(p.Leu436Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.629 in 1,603,196 control chromosomes in the GnomAD database, including 324,593 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. L436V) has been classified as Uncertain significance.
Frequency
Consequence
NM_015056.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RRP1B | NM_015056.3 | c.1307T>C | p.Leu436Pro | missense_variant | 13/16 | ENST00000340648.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RRP1B | ENST00000340648.6 | c.1307T>C | p.Leu436Pro | missense_variant | 13/16 | 1 | NM_015056.3 | P1 | |
RRP1B | ENST00000470886.1 | n.970T>C | non_coding_transcript_exon_variant | 2/5 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.725 AC: 110219AN: 152122Hom.: 41498 Cov.: 34
GnomAD3 exomes AF: 0.691 AC: 167810AN: 242928Hom.: 59468 AF XY: 0.678 AC XY: 89765AN XY: 132462
GnomAD4 exome AF: 0.619 AC: 897704AN: 1450956Hom.: 283026 Cov.: 60 AF XY: 0.618 AC XY: 445336AN XY: 720396
GnomAD4 genome ? AF: 0.725 AC: 110345AN: 152240Hom.: 41567 Cov.: 34 AF XY: 0.732 AC XY: 54471AN XY: 74428
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at