rs8097348

Variant names:

• chr18-1595020-G-A
• rs8097348
• ENST00000583163.2:n.335+28496G>A

Your query was ambiguous. Multiple possible variants found:

• chr18-1595020-G-A
• chr18-1595020-G-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The ENST00000583163.2(ENSG00000266602):​n.335+28496G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.713 in 151,782 control chromosomes in the GnomAD database, including 39,956 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 0.71 (39956 hom., cov: 31)
• Consequence: ENSG00000266602 ENST00000583163.2 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.147

Genes affected

ENSG00000266602 (HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.942 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
ENSG00000266602	ENST00000583163.2	n.335+28496G>A		intron_variant	Intron 3 of 4	2
ENSG00000266602	ENST00000652957.1	n.251+28496G>A		intron_variant	Intron 2 of 2
ENSG00000266602	ENST00000653006.1	n.311+28496G>A		intron_variant	Intron 3 of 4

Frequencies

GnomAD3 genomes AF: 0.713 AC: 108094 AN: 151666 Hom.: 39934 Cov.: 31

Gnomad AFR AF: 0.503

Gnomad AMI AF: 0.925

Gnomad AMR AF: 0.746

Gnomad ASJ AF: 0.740

Gnomad EAS AF: 0.964

Gnomad SAS AF: 0.880

Gnomad FIN AF: 0.860

Gnomad MID AF: 0.703

Gnomad NFE AF: 0.775

Gnomad OTH AF: 0.714

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

GnomAD4 genome AF: 0.713 AC: 108155 AN: 151782 Hom.: 39956 Cov.: 31 AF XY: 0.723 AC XY: 53649 AN XY: 74174

Gnomad4 AFR AF: 0.503

Gnomad4 AMR AF: 0.746

Gnomad4 ASJ AF: 0.740

Gnomad4 EAS AF: 0.964

Gnomad4 SAS AF: 0.880

Gnomad4 FIN AF: 0.860

Gnomad4 NFE AF: 0.775

Gnomad4 OTH AF: 0.718

Alfa AF: 0.764 Hom.: 32949

Bravo AF: 0.693

Asia WGS AF: 0.878 AC: 3047 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	0.65
DANN	Benign	0.21

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8097348; hg19: chr18-1595021;