rs8093815

Variant names:

• chr18-60369270-G-A
• rs8093815
• ENST00000650201.1:n.113+39925G>A

Your query was ambiguous. Multiple possible variants found:

• chr18-60369270-G-A
• chr18-60369270-G-C

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000650201.1(ENSG00000285681):​n.113+39925G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.327 in 152,012 control chromosomes in the GnomAD database, including 8,780 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 0.33 (8780 hom., cov: 32)
• Consequence: ENSG00000285681 ENST00000650201.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.84
• Publications: 12 publications found

Genes affected

ENSG00000285681 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.445 is higher than 0.05.

Variant Effect in Transcripts

ACMG analysis was done for transcript: ENST00000650201.1. You can select a different transcript below to see updated ACMG assignments.

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
	ENSG00000285681	ENST00000650201.1		n.113+39925G>A		intron	N/A
	ENSG00000285681	ENST00000658928.1		n.156+39925G>A		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.327 AC: 49673 AN: 151894 Hom.: 8754 Cov.: 32

Gnomad AFR AF: 0.450

Gnomad AMI AF: 0.373

Gnomad AMR AF: 0.287

Gnomad ASJ AF: 0.229

Gnomad EAS AF: 0.127

Gnomad SAS AF: 0.279

Gnomad FIN AF: 0.216

Gnomad MID AF: 0.247

Gnomad NFE AF: 0.302

Gnomad OTH AF: 0.317

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

GnomAD4 genome AF: 0.327 AC: 49734 AN: 152012 Hom.: 8780 Cov.: 32 AF XY: 0.319 AC XY: 23705 AN XY: 74280

African (AFR) AF: 0.451 AC: 18672 AN: 41432

American (AMR) AF: 0.286 AC: 4369 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.229 AC: 794 AN: 3470

East Asian (EAS) AF: 0.127 AC: 655 AN: 5170

South Asian (SAS) AF: 0.277 AC: 1336 AN: 4820

European-Finnish (FIN) AF: 0.216 AC: 2285 AN: 10566

Middle Eastern (MID) AF: 0.259 AC: 76 AN: 294

European-Non Finnish (NFE) AF: 0.302 AC: 20543 AN: 67972

Other (OTH) AF: 0.315 AC: 665 AN: 2112

Alfa AF: 0.315 Hom.: 19531

Bravo AF: 0.344

Asia WGS AF: 0.209 AC: 728 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.023
DANN	Benign	0.23
PhyloP100		-1.8

Splicing

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

MaxEntScan Visualizer can be used to analyze the impact of this mutation on the neighboring sequence.

Other links and lift over

dbSNP: rs8093815;

hg19: chr18-58036503;