NM_002542.6:c.406G>A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_002542.6(OGG1):c.406G>A(p.Asp136Asn) variant causes a missense change. The variant allele was found at a frequency of 0.000031 in 1,614,172 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_002542.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000191 AC: 29AN: 152170Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000437 AC: 11AN: 251494Hom.: 0 AF XY: 0.0000294 AC XY: 4AN XY: 135922
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1461884Hom.: 0 Cov.: 31 AF XY: 0.0000124 AC XY: 9AN XY: 727242
GnomAD4 genome AF: 0.000190 AC: 29AN: 152288Hom.: 0 Cov.: 32 AF XY: 0.000175 AC XY: 13AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.406G>A (p.D136N) alteration is located in exon 3 (coding exon 3) of the OGG1 gene. This alteration results from a G to A substitution at nucleotide position 406, causing the aspartic acid (D) at amino acid position 136 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at