rs8087095

Variant names:

• chr18-53771373-G-A
• rs8087095

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 0.24 in 151,884 control chromosomes in the GnomAD database, including 4,803 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 0.24 (4803 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.201

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.334 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: 0.240 AC: 36351 AN: 151766 Hom.: 4792 Cov.: 32

Gnomad AFR AF: 0.339

Gnomad AMI AF: 0.119

Gnomad AMR AF: 0.168

Gnomad ASJ AF: 0.147

Gnomad EAS AF: 0.0239

Gnomad SAS AF: 0.166

Gnomad FIN AF: 0.200

Gnomad MID AF: 0.237

Gnomad NFE AF: 0.230

Gnomad OTH AF: 0.223

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

GnomAD4 genome AF: 0.240 AC: 36413 AN: 151884 Hom.: 4803 Cov.: 32 AF XY: 0.237 AC XY: 17586 AN XY: 74250

Gnomad4 AFR AF: 0.339

Gnomad4 AMR AF: 0.169

Gnomad4 ASJ AF: 0.147

Gnomad4 EAS AF: 0.0238

Gnomad4 SAS AF: 0.166

Gnomad4 FIN AF: 0.200

Gnomad4 NFE AF: 0.230

Gnomad4 OTH AF: 0.219

Alfa AF: 0.242 Hom.: 794

Bravo AF: 0.241

Asia WGS AF: 0.117 AC: 405 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.4
DANN	Benign	0.33

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8087095; hg19: chr18-51297743;