rs8093228

Variant names:

• chr18-13999381-G-A
• rs8093228

Your query was ambiguous. Multiple possible variants found:

• chr18-13999381-G-A
• chr18-13999381-G-C

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 0.319 in 152,016 control chromosomes in the GnomAD database, including 8,235 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 0.32 (8235 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0370

ACMG classification

Verdict is Benign. Variant got -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 = 0.429 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: 0.319 AC: 48392 AN: 151898 Hom.: 8223 Cov.: 32

Gnomad AFR AF: 0.434

Gnomad AMI AF: 0.206

Gnomad AMR AF: 0.284

Gnomad ASJ AF: 0.344

Gnomad EAS AF: 0.128

Gnomad SAS AF: 0.270

Gnomad FIN AF: 0.246

Gnomad MID AF: 0.278

Gnomad NFE AF: 0.286

Gnomad OTH AF: 0.315

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

GnomAD4 genome AF: 0.319 AC: 48442 AN: 152016 Hom.: 8235 Cov.: 32 AF XY: 0.315 AC XY: 23386 AN XY: 74326

Gnomad4 AFR AF: 0.434

Gnomad4 AMR AF: 0.284

Gnomad4 ASJ AF: 0.344

Gnomad4 EAS AF: 0.129

Gnomad4 SAS AF: 0.271

Gnomad4 FIN AF: 0.246

Gnomad4 NFE AF: 0.286

Gnomad4 OTH AF: 0.312

Alfa AF: 0.294 Hom.: 2870

Bravo AF: 0.323

Asia WGS AF: 0.211 AC: 733 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	5.3
DANN	Benign	0.73

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8093228; hg19: chr18-13999380;