3-9751060-G-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_002542.6(OGG1):c.253G>T(p.Ala85Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00216 in 1,613,834 control chromosomes in the GnomAD database, including 7 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in Lovd as Likely benign (no stars). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_002542.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00139 AC: 211AN: 152156Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.00143 AC: 358AN: 250510Hom.: 2 AF XY: 0.00136 AC XY: 184AN XY: 135410
GnomAD4 exome AF: 0.00224 AC: 3276AN: 1461560Hom.: 6 Cov.: 31 AF XY: 0.00217 AC XY: 1578AN XY: 727054
GnomAD4 genome AF: 0.00139 AC: 211AN: 152274Hom.: 1 Cov.: 32 AF XY: 0.00117 AC XY: 87AN XY: 74464
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at