rs10866820

Variant names:

• chr8-23119657-A-G
• rs10866820

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 0.238 in 152,166 control chromosomes in the GnomAD database, including 4,670 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 0.24 (4670 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.102
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.326 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: 0.238 AC: 36124 AN: 152048 Hom.: 4657 Cov.: 33

Gnomad AFR AF: 0.331

Gnomad AMI AF: 0.218

Gnomad AMR AF: 0.201

Gnomad ASJ AF: 0.156

Gnomad EAS AF: 0.301

Gnomad SAS AF: 0.180

Gnomad FIN AF: 0.185

Gnomad MID AF: 0.133

Gnomad NFE AF: 0.203

Gnomad OTH AF: 0.194

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

GnomAD4 genome AF: 0.238 AC: 36159 AN: 152166 Hom.: 4670 Cov.: 33 AF XY: 0.236 AC XY: 17544 AN XY: 74378

African (AFR) AF: 0.331 AC: 13719 AN: 41460

American (AMR) AF: 0.202 AC: 3089 AN: 15308

Ashkenazi Jewish (ASJ) AF: 0.156 AC: 540 AN: 3468

East Asian (EAS) AF: 0.301 AC: 1555 AN: 5174

South Asian (SAS) AF: 0.178 AC: 862 AN: 4834

European-Finnish (FIN) AF: 0.185 AC: 1955 AN: 10596

Middle Eastern (MID) AF: 0.133 AC: 39 AN: 294

European-Non Finnish (NFE) AF: 0.203 AC: 13798 AN: 68008

Other (OTH) AF: 0.191 AC: 404 AN: 2114

Alfa AF: 0.205 Hom.: 4535

Bravo AF: 0.248

Asia WGS AF: 0.241 AC: 840 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	3.8
DANN	Benign	0.77
PhyloP100		0.10

Splicing

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

Other links and lift over

dbSNP: rs10866820; hg19: chr8-22977170;