rs539084201
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_015272.5(RPGRIP1L):āc.3301G>Cā(p.Ala1101Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000135 in 148,374 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. A1101T) has been classified as Uncertain significance.
Frequency
Consequence
NM_015272.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RPGRIP1L | NM_015272.5 | c.3301G>C | p.Ala1101Pro | missense_variant | 23/27 | ENST00000647211.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RPGRIP1L | ENST00000647211.2 | c.3301G>C | p.Ala1101Pro | missense_variant | 23/27 | NM_015272.5 |
Frequencies
GnomAD3 genomes AF: 0.0000135 AC: 2AN: 148374Hom.: 0 Cov.: 29
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 445170Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 237502
GnomAD4 genome AF: 0.0000135 AC: 2AN: 148374Hom.: 0 Cov.: 29 AF XY: 0.0000278 AC XY: 2AN XY: 72062
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at