rs2472037

Variant names:

• chr3-9753688-A-G
• rs2472037
• NM_002542.6:c.566-1016A>G

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_002542.6(OGG1):​c.566-1016A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.298 in 151,782 control chromosomes in the GnomAD database, including 7,761 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.30 (7761 hom., cov: 32)
• Consequence: OGG1 NM_002542.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.63
• Publications: 5 publications found

Genes affected

OGG1 (HGNC:8125): (8-oxoguanine DNA glycosylase) This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.69).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.373 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
OGG1	NM_002542.6	c.566-1016A>G		intron_variant	Intron 3 of 6	ENST00000344629.12	NP_002533.1

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
OGG1	ENST00000344629.12	c.566-1016A>G		intron_variant	Intron 3 of 6	1	NM_002542.6	ENSP00000342851.7

Frequencies

GnomAD3 genomes AF: 0.298 AC: 45207 AN: 151666 Hom.: 7760 Cov.: 32

Gnomad AFR AF: 0.163

Gnomad AMI AF: 0.528

Gnomad AMR AF: 0.273

Gnomad ASJ AF: 0.512

Gnomad EAS AF: 0.0379

Gnomad SAS AF: 0.243

Gnomad FIN AF: 0.410

Gnomad MID AF: 0.370

Gnomad NFE AF: 0.377

Gnomad OTH AF: 0.320

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.298 AC: 45217 AN: 151782 Hom.: 7761 Cov.: 32 AF XY: 0.297 AC XY: 22018 AN XY: 74160

African (AFR) AF: 0.163 AC: 6761 AN: 41370

American (AMR) AF: 0.272 AC: 4158 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.512 AC: 1776 AN: 3466

East Asian (EAS) AF: 0.0380 AC: 196 AN: 5158

South Asian (SAS) AF: 0.244 AC: 1177 AN: 4822

European-Finnish (FIN) AF: 0.410 AC: 4294 AN: 10468

Middle Eastern (MID) AF: 0.381 AC: 112 AN: 294

European-Non Finnish (NFE) AF: 0.377 AC: 25597 AN: 67916

Other (OTH) AF: 0.316 AC: 667 AN: 2110

Alfa AF: 0.321 Hom.: 3242

Bravo AF: 0.282

Asia WGS AF: 0.144 AC: 503 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.69
CADD	Benign	11
DANN	Benign	0.88
PhyloP100		1.6
Mutation Taster		=100/0	polymorphism (auto)

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs2472037; hg19: chr3-9795372;