8-18224320-G-A

Position:

• chr8-18224320-G-A

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 0.879 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

ACMG classification

Verdict is Benign. Variant got -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.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	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

Gnomad4 AFR AF: 0.974

Gnomad4 AMR AF: 0.753

Gnomad4 ASJ AF: 0.852

Gnomad4 EAS AF: 0.502

Gnomad4 SAS AF: 0.752

Gnomad4 FIN AF: 0.907

Gnomad4 NFE AF: 0.885

Gnomad4 OTH AF: 0.846

Alfa AF: 0.874 Hom.: 84117

Bravo AF: 0.870

Asia WGS AF: 0.648 AC: 2257 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9650592; hg19: chr8-18081829;