rs1566080

Variant names:

• chr8-141546705-A-C
• rs1566080

Your query was ambiguous. Multiple possible variants found:

• chr8-141546705-A-C
• chr8-141546705-A-G
• chr8-141546705-A-T

Variant summary

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

The variant allele was found at a frequency of 0.616 in 151,438 control chromosomes in the GnomAD database, including 29,048 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 0.62 (29048 hom., cov: 29)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0350
• Publications: 8 publications found

ACMG classification

Our verdict: Benign. The variant received -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 = 0.754 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

Frequencies

GnomAD3 genomes AF: 0.616 AC: 93251 AN: 151322 Hom.: 29011 Cov.: 29

Gnomad AFR AF: 0.652

Gnomad AMI AF: 0.584

Gnomad AMR AF: 0.696

Gnomad ASJ AF: 0.673

Gnomad EAS AF: 0.774

Gnomad SAS AF: 0.671

Gnomad FIN AF: 0.615

Gnomad MID AF: 0.599

Gnomad NFE AF: 0.559

Gnomad OTH AF: 0.611

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

GnomAD4 genome AF: 0.616 AC: 93335 AN: 151438 Hom.: 29048 Cov.: 29 AF XY: 0.622 AC XY: 45994 AN XY: 73946

African (AFR) AF: 0.651 AC: 26847 AN: 41220

American (AMR) AF: 0.697 AC: 10588 AN: 15198

Ashkenazi Jewish (ASJ) AF: 0.673 AC: 2331 AN: 3466

East Asian (EAS) AF: 0.774 AC: 3985 AN: 5150

South Asian (SAS) AF: 0.672 AC: 3209 AN: 4774

European-Finnish (FIN) AF: 0.615 AC: 6428 AN: 10454

Middle Eastern (MID) AF: 0.613 AC: 179 AN: 292

European-Non Finnish (NFE) AF: 0.559 AC: 37957 AN: 67878

Other (OTH) AF: 0.611 AC: 1280 AN: 2096

Alfa AF: 0.578 Hom.: 95487

Bravo AF: 0.622

Asia WGS AF: 0.702 AC: 2442 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	2.5
DANN	Benign	0.74
PhyloP100		-0.035

Splicing

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

Other links and lift over

dbSNP: rs1566080; hg19: chr8-142556805;