rs8091237

Variant names:

• chr18-60385970-C-G
• rs8091237
• ENST00000650201.1:n.113+56625C>G

Variant summary

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

The ENST00000650201.1(ENSG00000285681):​n.113+56625C>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.166 in 152,092 control chromosomes in the GnomAD database, including 2,546 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 0.17 (2546 hom., cov: 32)
• Consequence: ENSG00000285681 ENST00000650201.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.79
• Publications: 6 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=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.225 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+56625C>G		intron	N/A
	ENSG00000285681	ENST00000658928.1		n.156+56625C>G		intron	N/A

Frequencies

GnomAD3 genomes AF: 0.166 AC: 25290 AN: 151974 Hom.: 2547 Cov.: 32

Gnomad AFR AF: 0.0635

Gnomad AMI AF: 0.307

Gnomad AMR AF: 0.159

Gnomad ASJ AF: 0.197

Gnomad EAS AF: 0.0966

Gnomad SAS AF: 0.202

Gnomad FIN AF: 0.178

Gnomad MID AF: 0.182

Gnomad NFE AF: 0.228

Gnomad OTH AF: 0.175

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

GnomAD4 genome AF: 0.166 AC: 25285 AN: 152092 Hom.: 2546 Cov.: 32 AF XY: 0.163 AC XY: 12086 AN XY: 74334

African (AFR) AF: 0.0634 AC: 2631 AN: 41494

American (AMR) AF: 0.159 AC: 2430 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.197 AC: 684 AN: 3464

East Asian (EAS) AF: 0.0968 AC: 501 AN: 5174

South Asian (SAS) AF: 0.202 AC: 972 AN: 4816

European-Finnish (FIN) AF: 0.178 AC: 1882 AN: 10584

Middle Eastern (MID) AF: 0.188 AC: 55 AN: 292

European-Non Finnish (NFE) AF: 0.228 AC: 15483 AN: 67972

Other (OTH) AF: 0.174 AC: 368 AN: 2114

Alfa AF: 0.187 Hom.: 375

Bravo AF: 0.162

Asia WGS AF: 0.137 AC: 476 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.066
DANN	Benign	0.62
PhyloP100		-2.8

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: rs8091237;

hg19: chr18-58053203;