rs375761633
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002900.3(RBP3):c.1298C>T(p.Ser433Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000366 in 1,613,024 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002900.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152140Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000400 AC: 10AN: 250122Hom.: 0 AF XY: 0.0000664 AC XY: 9AN XY: 135442
GnomAD4 exome AF: 0.0000376 AC: 55AN: 1460884Hom.: 0 Cov.: 33 AF XY: 0.0000440 AC XY: 32AN XY: 726752
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152140Hom.: 0 Cov.: 33 AF XY: 0.0000269 AC XY: 2AN XY: 74312
ClinVar
Submissions by phenotype
not provided Uncertain:1
This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 19074801). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 208304). This variant is present in population databases (rs375761633, gnomAD 0.009%). This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 433 of the RBP3 protein (p.Ser433Leu). -
Retinitis pigmentosa 66 Uncertain:1
- -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at