chr18-72679085-A-G

Variant names:

• chr18-72679085-A-G
• rs8090940

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 0.739 in 152,130 control chromosomes in the GnomAD database, including 41,815 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 0.74 (41815 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.292
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.799 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: 0.739 AC: 112360 AN: 152010 Hom.: 41779 Cov.: 33

Gnomad AFR AF: 0.806

Gnomad AMI AF: 0.893

Gnomad AMR AF: 0.793

Gnomad ASJ AF: 0.801

Gnomad EAS AF: 0.702

Gnomad SAS AF: 0.712

Gnomad FIN AF: 0.679

Gnomad MID AF: 0.772

Gnomad NFE AF: 0.694

Gnomad OTH AF: 0.761

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

GnomAD4 genome AF: 0.739 AC: 112448 AN: 152130 Hom.: 41815 Cov.: 33 AF XY: 0.739 AC XY: 54968 AN XY: 74376

African (AFR) AF: 0.806 AC: 33442 AN: 41494

American (AMR) AF: 0.793 AC: 12126 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.801 AC: 2782 AN: 3472

East Asian (EAS) AF: 0.703 AC: 3635 AN: 5170

South Asian (SAS) AF: 0.712 AC: 3436 AN: 4826

European-Finnish (FIN) AF: 0.679 AC: 7171 AN: 10554

Middle Eastern (MID) AF: 0.776 AC: 228 AN: 294

European-Non Finnish (NFE) AF: 0.694 AC: 47221 AN: 68002

Other (OTH) AF: 0.754 AC: 1594 AN: 2114

Alfa AF: 0.708 Hom.: 91988

Bravo AF: 0.752

Asia WGS AF: 0.713 AC: 2480 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.7
DANN	Benign	0.64
PhyloP100		-0.29

Splicing

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

Other links and lift over

dbSNP: rs8090940; hg19: chr18-70346320;