9-8098188-A-G

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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

Gnomad4 AFR AF: 0.896

Gnomad4 AMR AF: 0.837

Gnomad4 ASJ AF: 0.823

Gnomad4 EAS AF: 0.894

Gnomad4 SAS AF: 0.841

Gnomad4 FIN AF: 0.940

Gnomad4 NFE AF: 0.885

Gnomad4 OTH AF: 0.864

Alfa AF: 0.863 Hom.: 5723

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

Splicing

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

Publications

LitVar

Other links and lift over

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