rs368898051
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002900.3(RBP3):c.973G>A(p.Ala325Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000732 in 1,612,498 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
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000118 AC: 18AN: 152162Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000646 AC: 16AN: 247566Hom.: 0 AF XY: 0.0000521 AC XY: 7AN XY: 134444
GnomAD4 exome AF: 0.0000685 AC: 100AN: 1460336Hom.: 0 Cov.: 33 AF XY: 0.0000771 AC XY: 56AN XY: 726504
GnomAD4 genome AF: 0.000118 AC: 18AN: 152162Hom.: 0 Cov.: 33 AF XY: 0.000108 AC XY: 8AN XY: 74322
ClinVar
Submissions by phenotype
not provided Uncertain:2
This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 325 of the RBP3 protein (p.Ala325Thr). This variant is present in population databases (rs368898051, gnomAD 0.01%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 19074801). ClinVar contains an entry for this variant (Variation ID: 193244). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. -
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Retinal dystrophy Uncertain:1
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Retinitis pigmentosa 66 Uncertain:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at