rs9325872

Variant names:

• chr8-20622760-A-G
• rs9325872

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 0.482 in 151,768 control chromosomes in the GnomAD database, including 20,693 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 0.48 (20693 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.00400

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.647 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: 0.482 AC: 73121 AN: 151650 Hom.: 20694 Cov.: 30

Gnomad AFR AF: 0.226

Gnomad AMI AF: 0.665

Gnomad AMR AF: 0.396

Gnomad ASJ AF: 0.637

Gnomad EAS AF: 0.103

Gnomad SAS AF: 0.471

Gnomad FIN AF: 0.627

Gnomad MID AF: 0.582

Gnomad NFE AF: 0.652

Gnomad OTH AF: 0.504

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

GnomAD4 genome AF: 0.482 AC: 73122 AN: 151768 Hom.: 20693 Cov.: 30 AF XY: 0.479 AC XY: 35486 AN XY: 74152

Gnomad4 AFR AF: 0.226

Gnomad4 AMR AF: 0.396

Gnomad4 ASJ AF: 0.637

Gnomad4 EAS AF: 0.103

Gnomad4 SAS AF: 0.471

Gnomad4 FIN AF: 0.627

Gnomad4 NFE AF: 0.652

Gnomad4 OTH AF: 0.503

Alfa AF: 0.604 Hom.: 64046

Bravo AF: 0.448

Asia WGS AF: 0.290 AC: 1013 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.8
DANN	Benign	0.31

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9325872; hg19: chr8-20480271;