2-85344087-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_017750.4(RETSAT):c.1445G>A(p.Arg482Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000125 in 1,613,896 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017750.4 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 |
---|---|---|---|---|---|---|---|---|---|---|
RETSAT | ENST00000295802.9 | c.1445G>A | p.Arg482Gln | missense_variant | Exon 9 of 11 | 1 | NM_017750.4 | ENSP00000295802.4 | ||
RETSAT | ENST00000429806.5 | n.880+152G>A | intron_variant | Intron 6 of 7 | 1 | ENSP00000388202.1 | ||||
RETSAT | ENST00000449375.1 | c.809G>A | p.Arg270Gln | missense_variant | Exon 6 of 8 | 5 | ENSP00000412166.1 | |||
RETSAT | ENST00000438611.4 | n.*508+152G>A | intron_variant | Intron 4 of 5 | 5 | ENSP00000444814.1 |
Frequencies
GnomAD3 genomes AF: 0.000105 AC: 16AN: 152026Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000131 AC: 33AN: 251418Hom.: 0 AF XY: 0.000140 AC XY: 19AN XY: 135876
GnomAD4 exome AF: 0.000127 AC: 185AN: 1461754Hom.: 0 Cov.: 34 AF XY: 0.000153 AC XY: 111AN XY: 727168
GnomAD4 genome AF: 0.000105 AC: 16AN: 152142Hom.: 0 Cov.: 32 AF XY: 0.0000941 AC XY: 7AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1445G>A (p.R482Q) alteration is located in exon 9 (coding exon 9) of the RETSAT gene. This alteration results from a G to A substitution at nucleotide position 1445, causing the arginine (R) at amino acid position 482 to be replaced by a glutamine (Q). 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