8-18224320-G-A

Variant names:

• chr8-18224320-G-A
• rs9650592

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 0.879 in 152,258 control chromosomes in the GnomAD database, including 59,666 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 (59666 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.500
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.966 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.879 AC: 133752 AN: 152138 Hom.: 59603 Cov.: 33

Gnomad AFR AF: 0.974

Gnomad AMI AF: 0.931

Gnomad AMR AF: 0.753

Gnomad ASJ AF: 0.852

Gnomad EAS AF: 0.502

Gnomad SAS AF: 0.751

Gnomad FIN AF: 0.907

Gnomad MID AF: 0.818

Gnomad NFE AF: 0.885

Gnomad OTH AF: 0.847

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

GnomAD4 genome AF: 0.879 AC: 133871 AN: 152258 Hom.: 59666 Cov.: 33 AF XY: 0.873 AC XY: 65021 AN XY: 74450

African (AFR) AF: 0.974 AC: 40482 AN: 41570

American (AMR) AF: 0.753 AC: 11511 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.852 AC: 2957 AN: 3472

East Asian (EAS) AF: 0.502 AC: 2589 AN: 5162

South Asian (SAS) AF: 0.752 AC: 3627 AN: 4826

European-Finnish (FIN) AF: 0.907 AC: 9615 AN: 10606

Middle Eastern (MID) AF: 0.818 AC: 239 AN: 292

European-Non Finnish (NFE) AF: 0.885 AC: 60216 AN: 68012

Other (OTH) AF: 0.846 AC: 1786 AN: 2110

Alfa AF: 0.876 Hom.: 115571

Bravo AF: 0.870

Asia WGS AF: 0.648 AC: 2257 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.15
DANN	Benign	0.34
PhyloP100		-0.50

Splicing

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

Other links and lift over

dbSNP: rs9650592; hg19: chr8-18081829;