3-9750414-A-T
Variant summary
Our verdict is Likely pathogenic. Variant got 6 ACMG points: 6P and 0B. PM2PP3_Strong
The NM_002542.6(OGG1):c.128A>T(p.Gln43Leu) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000342 in 1,461,676 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. 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 Likely_pathogenic. Variant got 6 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 250310Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135422
GnomAD4 exome AF: 0.00000342 AC: 5AN: 1461676Hom.: 0 Cov.: 31 AF XY: 0.00000275 AC XY: 2AN XY: 727176
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.128A>T (p.Q43L) alteration is located in exon 1 (coding exon 1) of the OGG1 gene. This alteration results from a A to T substitution at nucleotide position 128, causing the glutamine (Q) at amino acid position 43 to be replaced by a leucine (L). 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