rs1052133
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_002542.6(OGG1):āc.977C>Gā(p.Ser326Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.241 in 1,614,026 control chromosomes in the GnomAD database, including 50,216 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/16 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002542.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
OGG1 | NM_002542.6 | c.977C>G | p.Ser326Cys | missense_variant | 7/7 | ENST00000344629.12 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
OGG1 | ENST00000344629.12 | c.977C>G | p.Ser326Cys | missense_variant | 7/7 | 1 | NM_002542.6 | P1 |
Frequencies
GnomAD3 genomes AF: 0.221 AC: 33640AN: 152114Hom.: 4196 Cov.: 32
GnomAD3 exomes AF: 0.274 AC: 68570AN: 250506Hom.: 11017 AF XY: 0.270 AC XY: 36667AN XY: 135562
GnomAD4 exome AF: 0.243 AC: 355035AN: 1461794Hom.: 46031 Cov.: 38 AF XY: 0.244 AC XY: 177609AN XY: 727190
GnomAD4 genome AF: 0.221 AC: 33628AN: 152232Hom.: 4185 Cov.: 32 AF XY: 0.220 AC XY: 16365AN XY: 74410
ClinVar
Submissions by phenotype
OGG1-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Oct 17, 2019 | 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