rs537816
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000415136.6(DDOST):c.22C>T(p.Arg8Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000274 in 1,459,266 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign 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. R8G) has been classified as Benign.
Frequency
Consequence
ENST00000415136.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DDOST | NM_005216.5 | upstream_gene_variant | ENST00000602624.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DDOST | ENST00000415136.6 | c.22C>T | p.Arg8Cys | missense_variant | 1/11 | 1 | |||
DDOST | ENST00000464364.1 | c.-30C>T | 5_prime_UTR_variant | 1/4 | 5 | ||||
DDOST | ENST00000602624.7 | upstream_gene_variant | 1 | NM_005216.5 | P1 | ||||
DDOST | ENST00000477229.1 | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 35
GnomAD4 exome AF: 0.00000274 AC: 4AN: 1459266Hom.: 0 Cov.: 47 AF XY: 0.00000413 AC XY: 3AN XY: 725890
GnomAD4 genome ? Cov.: 35
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at