12-55724028-G-C
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM1PM2PM5PP3_Moderate
The NM_002905.5(RDH5):c.712G>C(p.Gly238Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000206 in 1,459,094 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. G238W) has been classified as Likely pathogenic.
Frequency
Consequence
NM_002905.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
RDH5 | NM_002905.5 | c.712G>C | p.Gly238Arg | missense_variant | 4/5 | ENST00000257895.10 | |
BLOC1S1-RDH5 | NR_037658.1 | n.771G>C | non_coding_transcript_exon_variant | 5/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
RDH5 | ENST00000257895.10 | c.712G>C | p.Gly238Arg | missense_variant | 4/5 | 1 | NM_002905.5 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000405 AC: 1AN: 246894Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133976
GnomAD4 exome AF: 0.00000206 AC: 3AN: 1459094Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725916
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at