rs8099817

Variant names:

• chr18-68035753-G-A
• rs8099817

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 0.396 in 151,798 control chromosomes in the GnomAD database, including 12,644 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 0.40 (12644 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0830
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.559 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: 0.396 AC: 60010 AN: 151678 Hom.: 12612 Cov.: 31

Gnomad AFR AF: 0.488

Gnomad AMI AF: 0.338

Gnomad AMR AF: 0.488

Gnomad ASJ AF: 0.421

Gnomad EAS AF: 0.470

Gnomad SAS AF: 0.577

Gnomad FIN AF: 0.254

Gnomad MID AF: 0.413

Gnomad NFE AF: 0.322

Gnomad OTH AF: 0.390

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

GnomAD4 genome AF: 0.396 AC: 60084 AN: 151798 Hom.: 12644 Cov.: 31 AF XY: 0.396 AC XY: 29416 AN XY: 74190

African (AFR) AF: 0.488 AC: 20202 AN: 41378

American (AMR) AF: 0.489 AC: 7439 AN: 15218

Ashkenazi Jewish (ASJ) AF: 0.421 AC: 1458 AN: 3466

East Asian (EAS) AF: 0.470 AC: 2408 AN: 5126

South Asian (SAS) AF: 0.577 AC: 2776 AN: 4812

European-Finnish (FIN) AF: 0.254 AC: 2680 AN: 10566

Middle Eastern (MID) AF: 0.401 AC: 117 AN: 292

European-Non Finnish (NFE) AF: 0.322 AC: 21885 AN: 67926

Other (OTH) AF: 0.386 AC: 813 AN: 2108

Alfa AF: 0.371 Hom.: 4251

Bravo AF: 0.415

Asia WGS AF: 0.535 AC: 1859 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.4
DANN	Benign	0.26
PhyloP100		0.083

Splicing

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

Other links and lift over

dbSNP: rs8099817; hg19: chr18-65702990;