rs9886784

Variant names:

• chr9-1521204-A-C
• rs9886784

Your query was ambiguous. Multiple possible variants found:

• chr9-1521204-A-C
• chr9-1521204-A-G
• chr9-1521204-A-T

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 0.746 in 152,164 control chromosomes in the GnomAD database, including 43,132 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 0.75 (43132 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.347
• Publications: 11 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.809 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: 0.746 AC: 113440 AN: 152046 Hom.: 43089 Cov.: 33

Gnomad AFR AF: 0.600

Gnomad AMI AF: 0.842

Gnomad AMR AF: 0.820

Gnomad ASJ AF: 0.786

Gnomad EAS AF: 0.795

Gnomad SAS AF: 0.729

Gnomad FIN AF: 0.851

Gnomad MID AF: 0.769

Gnomad NFE AF: 0.795

Gnomad OTH AF: 0.781

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

GnomAD4 genome AF: 0.746 AC: 113536 AN: 152164 Hom.: 43132 Cov.: 33 AF XY: 0.751 AC XY: 55844 AN XY: 74392

African (AFR) AF: 0.600 AC: 24905 AN: 41484

American (AMR) AF: 0.821 AC: 12557 AN: 15302

Ashkenazi Jewish (ASJ) AF: 0.786 AC: 2726 AN: 3468

East Asian (EAS) AF: 0.796 AC: 4101 AN: 5154

South Asian (SAS) AF: 0.729 AC: 3514 AN: 4822

European-Finnish (FIN) AF: 0.851 AC: 9030 AN: 10610

Middle Eastern (MID) AF: 0.772 AC: 227 AN: 294

European-Non Finnish (NFE) AF: 0.795 AC: 54060 AN: 68008

Other (OTH) AF: 0.781 AC: 1648 AN: 2110

Alfa AF: 0.787 Hom.: 70333

Bravo AF: 0.740

Asia WGS AF: 0.783 AC: 2723 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.87
DANN	Benign	0.63
PhyloP100		0.35

Splicing

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

Other links and lift over

dbSNP: rs9886784; hg19: chr9-1521204;