rs8087644

Variant names:

• chr18-53903128-A-G
• rs8087644

Your query was ambiguous. Multiple possible variants found:

• chr18-53903128-A-G
• chr18-53903128-A-T

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 0.465 in 152,050 control chromosomes in the GnomAD database, including 16,818 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 0.46 (16818 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.373
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.545 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: 0.465 AC: 70640 AN: 151932 Hom.: 16806 Cov.: 33

Gnomad AFR AF: 0.484

Gnomad AMI AF: 0.691

Gnomad AMR AF: 0.359

Gnomad ASJ AF: 0.498

Gnomad EAS AF: 0.562

Gnomad SAS AF: 0.262

Gnomad FIN AF: 0.438

Gnomad MID AF: 0.487

Gnomad NFE AF: 0.483

Gnomad OTH AF: 0.471

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

GnomAD4 genome AF: 0.465 AC: 70694 AN: 152050 Hom.: 16818 Cov.: 33 AF XY: 0.456 AC XY: 33925 AN XY: 74338

African (AFR) AF: 0.484 AC: 20060 AN: 41470

American (AMR) AF: 0.358 AC: 5474 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.498 AC: 1730 AN: 3472

East Asian (EAS) AF: 0.562 AC: 2909 AN: 5174

South Asian (SAS) AF: 0.262 AC: 1264 AN: 4822

European-Finnish (FIN) AF: 0.438 AC: 4625 AN: 10554

Middle Eastern (MID) AF: 0.493 AC: 145 AN: 294

European-Non Finnish (NFE) AF: 0.484 AC: 32860 AN: 67958

Other (OTH) AF: 0.473 AC: 997 AN: 2108

Alfa AF: 0.474 Hom.: 50405

Bravo AF: 0.464

Asia WGS AF: 0.442 AC: 1538 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	3.6
DANN	Benign	0.83
PhyloP100		0.37

Splicing

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

Other links and lift over

dbSNP: rs8087644; hg19: chr18-51429498; COSMIC: COSV52681756;