NM_001917.5:c.279G>A
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_001917.5(DAO):c.279G>A(p.Ser93Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0911 in 1,613,036 control chromosomes in the GnomAD database, including 9,252 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001917.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DAO | NM_001917.5 | c.279G>A | p.Ser93Ser | synonymous_variant | Exon 3 of 11 | ENST00000228476.8 | NP_001908.3 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.138 AC: 21013AN: 151826Hom.: 2284 Cov.: 32
GnomAD3 exomes AF: 0.0948 AC: 23843AN: 251454Hom.: 1780 AF XY: 0.0966 AC XY: 13134AN XY: 135902
GnomAD4 exome AF: 0.0862 AC: 125973AN: 1461092Hom.: 6958 Cov.: 31 AF XY: 0.0880 AC XY: 63961AN XY: 726902
GnomAD4 genome AF: 0.139 AC: 21054AN: 151944Hom.: 2294 Cov.: 32 AF XY: 0.136 AC XY: 10121AN XY: 74284
ClinVar
Submissions by phenotype
not provided Benign:2
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DAO-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at