chr2-18560310-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_020905.4(RDH14):c.263G>C(p.Arg88Pro) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_020905.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 3 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
RDH14 | ENST00000381249.4 | c.263G>C | p.Arg88Pro | missense_variant | Exon 1 of 2 | 1 | NM_020905.4 | ENSP00000370648.3 | ||
NT5C1B-RDH14 | ENST00000532967.5 | c.1784+3535G>C | intron_variant | Intron 10 of 10 | 2 | ENSP00000433415.1 | ||||
NT5C1B-RDH14 | ENST00000444297.2 | c.1336-4502G>C | intron_variant | Intron 8 of 8 | 2 | ENSP00000412639.2 | ||||
RDH14 | ENST00000468071.1 | n.50+320G>C | intron_variant | Intron 1 of 1 | 2 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 1282264Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 629414
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.263G>C (p.R88P) alteration is located in exon 1 (coding exon 1) of the RDH14 gene. This alteration results from a G to C substitution at nucleotide position 263, causing the arginine (R) at amino acid position 88 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.