3-9756791-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 1P and 10B. PP3BP4_StrongBP6_ModerateBS2
The NM_002542.6(OGG1):c.923G>A(p.Gly308Glu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00487 in 1,614,070 control chromosomes in the GnomAD database, including 26 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_002542.6 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00359 AC: 546AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00387 AC: 972AN: 251476Hom.: 4 AF XY: 0.00394 AC XY: 536AN XY: 135916
GnomAD4 exome AF: 0.00501 AC: 7323AN: 1461838Hom.: 26 Cov.: 34 AF XY: 0.00503 AC XY: 3655AN XY: 727218
GnomAD4 genome AF: 0.00358 AC: 545AN: 152232Hom.: 0 Cov.: 32 AF XY: 0.00318 AC XY: 237AN XY: 74430
ClinVar
Submissions by phenotype
OGG1-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
not provided Benign:1
OGG1: BS2 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at