NM_017750.4:c.1700A>G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_017750.4(RETSAT):c.1700A>G(p.Asp567Gly) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000893 in 1,612,296 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D567Y) has been classified 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 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000985 AC: 15AN: 152294Hom.: 0 Cov.: 36
GnomAD3 exomes AF: 0.0000320 AC: 8AN: 250104Hom.: 0 AF XY: 0.0000222 AC XY: 3AN XY: 135326
GnomAD4 exome AF: 0.0000884 AC: 129AN: 1460002Hom.: 0 Cov.: 31 AF XY: 0.0000868 AC XY: 63AN XY: 726122
GnomAD4 genome AF: 0.0000985 AC: 15AN: 152294Hom.: 0 Cov.: 36 AF XY: 0.0000941 AC XY: 7AN XY: 74406
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1700A>G (p.D567G) alteration is located in exon 11 (coding exon 11) of the RETSAT gene. This alteration results from a A to G substitution at nucleotide position 1700, causing the aspartic acid (D) at amino acid position 567 to be replaced by a glycine (G). 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