rs8118663

Variant names:

• chr20-32811070-A-G
• rs8118663

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 0.247 in 152,016 control chromosomes in the GnomAD database, including 5,078 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 0.25 (5078 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.746
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.77).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.544 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: 0.247 AC: 37498 AN: 151896 Hom.: 5068 Cov.: 31

Gnomad AFR AF: 0.231

Gnomad AMI AF: 0.192

Gnomad AMR AF: 0.327

Gnomad ASJ AF: 0.197

Gnomad EAS AF: 0.561

Gnomad SAS AF: 0.304

Gnomad FIN AF: 0.244

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.215

Gnomad OTH AF: 0.243

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

GnomAD4 genome AF: 0.247 AC: 37531 AN: 152016 Hom.: 5078 Cov.: 31 AF XY: 0.249 AC XY: 18510 AN XY: 74286

African (AFR) AF: 0.230 AC: 9548 AN: 41464

American (AMR) AF: 0.328 AC: 5017 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.197 AC: 685 AN: 3472

East Asian (EAS) AF: 0.561 AC: 2890 AN: 5152

South Asian (SAS) AF: 0.303 AC: 1460 AN: 4816

European-Finnish (FIN) AF: 0.244 AC: 2575 AN: 10558

Middle Eastern (MID) AF: 0.143 AC: 42 AN: 294

European-Non Finnish (NFE) AF: 0.215 AC: 14623 AN: 67962

Other (OTH) AF: 0.244 AC: 516 AN: 2114

Alfa AF: 0.230 Hom.: 5456

Bravo AF: 0.255

Asia WGS AF: 0.441 AC: 1531 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.77
CADD	Benign	15
DANN	Benign	0.66
PhyloP100		0.75

Splicing

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

Other links and lift over

dbSNP: rs8118663; hg19: chr20-31398876;