rs8094090

Variant names:

• chr18-32530341-G-A
• rs8094090
• ENST00000646805.1:n.359+12210G>A

Your query was ambiguous. Multiple possible variants found:

• chr18-32530341-G-A
• chr18-32530341-G-C

Variant summary

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

The ENST00000646805.1(ENSG00000285095):​n.359+12210G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.588 in 151,914 control chromosomes in the GnomAD database, including 26,482 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 0.59 (26482 hom., cov: 32)
• Consequence: ENSG00000285095 ENST00000646805.1 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.19
• Publications: 5 publications found

Genes affected

ENSG00000285095 (HGNC:):

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.55).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.792 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
ENSG00000285095	ENST00000646805.1	n.359+12210G>A		intron_variant	Intron 2 of 6
ENSG00000285095	ENST00000654761.1	n.184+12374G>A		intron_variant	Intron 2 of 2
ENSG00000285095	ENST00000716676.1	n.275+12374G>A		intron_variant	Intron 3 of 5

Frequencies

GnomAD3 genomes AF: 0.588 AC: 89282 AN: 151796 Hom.: 26458 Cov.: 32

Gnomad AFR AF: 0.618

Gnomad AMI AF: 0.552

Gnomad AMR AF: 0.533

Gnomad ASJ AF: 0.508

Gnomad EAS AF: 0.813

Gnomad SAS AF: 0.708

Gnomad FIN AF: 0.574

Gnomad MID AF: 0.465

Gnomad NFE AF: 0.566

Gnomad OTH AF: 0.549

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

GnomAD4 genome AF: 0.588 AC: 89354 AN: 151914 Hom.: 26482 Cov.: 32 AF XY: 0.592 AC XY: 43919 AN XY: 74224

African (AFR) AF: 0.618 AC: 25590 AN: 41420

American (AMR) AF: 0.532 AC: 8121 AN: 15262

Ashkenazi Jewish (ASJ) AF: 0.508 AC: 1761 AN: 3466

East Asian (EAS) AF: 0.813 AC: 4208 AN: 5176

South Asian (SAS) AF: 0.708 AC: 3407 AN: 4814

European-Finnish (FIN) AF: 0.574 AC: 6033 AN: 10516

Middle Eastern (MID) AF: 0.459 AC: 135 AN: 294

European-Non Finnish (NFE) AF: 0.566 AC: 38433 AN: 67942

Other (OTH) AF: 0.551 AC: 1164 AN: 2114

Alfa AF: 0.566 Hom.: 60396

Bravo AF: 0.582

Asia WGS AF: 0.750 AC: 2609 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.55
CADD	Benign	16
DANN	Benign	0.75
PhyloP100		1.2

Splicing

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

Other links and lift over

dbSNP: rs8094090; hg19: chr18-30110304;