12-108887534-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001917.5(DAO):āc.279G>Cā(p.Ser93Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000707 in 1,613,518 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001917.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DAO | NM_001917.5 | c.279G>C | p.Ser93Ser | synonymous_variant | Exon 3 of 11 | ENST00000228476.8 | NP_001908.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000658 AC: 10AN: 151866Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000199 AC: 5AN: 251454Hom.: 0 AF XY: 0.0000147 AC XY: 2AN XY: 135902
GnomAD4 exome AF: 0.0000712 AC: 104AN: 1461652Hom.: 0 Cov.: 31 AF XY: 0.0000688 AC XY: 50AN XY: 727150
GnomAD4 genome AF: 0.0000658 AC: 10AN: 151866Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74172
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at