rs8094523

Variant names:

• chr18-60210922-G-A
• rs8094523

Your query was ambiguous. Multiple possible variants found:

• chr18-60210922-G-A
• chr18-60210922-G-C

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 0.0925 in 151,986 control chromosomes in the GnomAD database, including 782 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 0.092 (782 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.00600
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.66).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.139 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: 0.0925 AC: 14045 AN: 151866 Hom.: 782 Cov.: 32

Gnomad AFR AF: 0.142

Gnomad AMI AF: 0.0636

Gnomad AMR AF: 0.0507

Gnomad ASJ AF: 0.0649

Gnomad EAS AF: 0.00675

Gnomad SAS AF: 0.0961

Gnomad FIN AF: 0.144

Gnomad MID AF: 0.0987

Gnomad NFE AF: 0.0721

Gnomad OTH AF: 0.0746

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

GnomAD4 genome AF: 0.0925 AC: 14057 AN: 151986 Hom.: 782 Cov.: 32 AF XY: 0.0955 AC XY: 7093 AN XY: 74278

African (AFR) AF: 0.142 AC: 5903 AN: 41454

American (AMR) AF: 0.0506 AC: 772 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.0649 AC: 225 AN: 3468

East Asian (EAS) AF: 0.00657 AC: 34 AN: 5174

South Asian (SAS) AF: 0.0953 AC: 459 AN: 4816

European-Finnish (FIN) AF: 0.144 AC: 1521 AN: 10550

Middle Eastern (MID) AF: 0.0952 AC: 28 AN: 294

European-Non Finnish (NFE) AF: 0.0721 AC: 4899 AN: 67936

Other (OTH) AF: 0.0747 AC: 158 AN: 2114

Alfa AF: 0.0724 Hom.: 754

Bravo AF: 0.0854

Asia WGS AF: 0.0600 AC: 206 AN: 3466

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.66
CADD	Benign	7.0
DANN	Benign	0.50
PhyloP100		-0.0060

Splicing

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

Other links and lift over

dbSNP: rs8094523; hg19: chr18-57878155;