rs8093763

Variant names:

• chr18-59836146-G-A
• rs8093763

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 0.3 in 152,104 control chromosomes in the GnomAD database, including 7,171 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 0.30 (7171 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.829
• Publications: 17 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.378 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.300 AC: 45584 AN: 151986 Hom.: 7151 Cov.: 33

Gnomad AFR AF: 0.383

Gnomad AMI AF: 0.162

Gnomad AMR AF: 0.233

Gnomad ASJ AF: 0.240

Gnomad EAS AF: 0.249

Gnomad SAS AF: 0.384

Gnomad FIN AF: 0.331

Gnomad MID AF: 0.253

Gnomad NFE AF: 0.264

Gnomad OTH AF: 0.267

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

GnomAD4 genome AF: 0.300 AC: 45645 AN: 152104 Hom.: 7171 Cov.: 33 AF XY: 0.303 AC XY: 22530 AN XY: 74348

African (AFR) AF: 0.383 AC: 15882 AN: 41454

American (AMR) AF: 0.233 AC: 3563 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.240 AC: 834 AN: 3468

East Asian (EAS) AF: 0.249 AC: 1287 AN: 5178

South Asian (SAS) AF: 0.384 AC: 1854 AN: 4832

European-Finnish (FIN) AF: 0.331 AC: 3498 AN: 10568

Middle Eastern (MID) AF: 0.255 AC: 75 AN: 294

European-Non Finnish (NFE) AF: 0.264 AC: 17925 AN: 67992

Other (OTH) AF: 0.274 AC: 579 AN: 2110

Alfa AF: 0.272 Hom.: 20543

Bravo AF: 0.292

Asia WGS AF: 0.349 AC: 1213 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	2.8
DANN	Benign	0.66
PhyloP100		0.83

Splicing

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

Other links and lift over

dbSNP: rs8093763; hg19: chr18-57503378;