chr9-8098188-A-G

Variant names:

• chr9-8098188-A-G
• rs7867126

Variant summary

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

The variant allele was found at a frequency of 0.884 in 152,054 control chromosomes in the GnomAD database, including 59,591 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 0.88 (59591 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.68
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.08).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.888 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.884 AC: 134328 AN: 151936 Hom.: 59551 Cov.: 30

Gnomad AFR AF: 0.896

Gnomad AMI AF: 0.859

Gnomad AMR AF: 0.837

Gnomad ASJ AF: 0.823

Gnomad EAS AF: 0.894

Gnomad SAS AF: 0.841

Gnomad FIN AF: 0.940

Gnomad MID AF: 0.867

Gnomad NFE AF: 0.885

Gnomad OTH AF: 0.864

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

GnomAD4 genome AF: 0.884 AC: 134423 AN: 152054 Hom.: 59591 Cov.: 30 AF XY: 0.885 AC XY: 65761 AN XY: 74302

African (AFR) AF: 0.896 AC: 37135 AN: 41468

American (AMR) AF: 0.837 AC: 12780 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.823 AC: 2858 AN: 3472

East Asian (EAS) AF: 0.894 AC: 4586 AN: 5130

South Asian (SAS) AF: 0.841 AC: 4040 AN: 4804

European-Finnish (FIN) AF: 0.940 AC: 9963 AN: 10602

Middle Eastern (MID) AF: 0.864 AC: 254 AN: 294

European-Non Finnish (NFE) AF: 0.885 AC: 60203 AN: 67990

Other (OTH) AF: 0.864 AC: 1822 AN: 2110

Alfa AF: 0.869 Hom.: 9025

Bravo AF: 0.877

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.1
CADD	Benign	0.095
DANN	Benign	0.15
PhyloP100		-2.7

Splicing

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

Other links and lift over

dbSNP: rs7867126; hg19: chr9-8098188; COSMIC: COSV69445853;