rs8091237

Variant names:

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

Variant summary

Our verdict is Benign. Variant got -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

Genes affected

ENSG00000285681 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -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.

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
ENSG00000285681	ENST00000650201.1	n.113+56625C>G		intron_variant	Intron 1 of 3
ENSG00000285681	ENST00000658928.1	n.156+56625C>G		intron_variant	Intron 1 of 3

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

Gnomad4 AFR AF: 0.0634

Gnomad4 AMR AF: 0.159

Gnomad4 ASJ AF: 0.197

Gnomad4 EAS AF: 0.0968

Gnomad4 SAS AF: 0.202

Gnomad4 FIN AF: 0.178

Gnomad4 NFE AF: 0.228

Gnomad4 OTH AF: 0.174

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8091237; hg19: chr18-58053203;