8-21566779-G-T

Variant names:

• chr8-21566779-G-T
• rs17094201

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 0.093 in 152,016 control chromosomes in the GnomAD database, including 852 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 0.093 (852 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.161
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.162 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: 0.0927 AC: 14086 AN: 151898 Hom.: 839 Cov.: 33

Gnomad AFR AF: 0.165

Gnomad AMI AF: 0.00219

Gnomad AMR AF: 0.0692

Gnomad ASJ AF: 0.110

Gnomad EAS AF: 0.113

Gnomad SAS AF: 0.133

Gnomad FIN AF: 0.0644

Gnomad MID AF: 0.114

Gnomad NFE AF: 0.0546

Gnomad OTH AF: 0.0910

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

GnomAD4 genome AF: 0.0930 AC: 14136 AN: 152016 Hom.: 852 Cov.: 33 AF XY: 0.0938 AC XY: 6974 AN XY: 74316

African (AFR) AF: 0.165 AC: 6852 AN: 41418

American (AMR) AF: 0.0694 AC: 1060 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.110 AC: 382 AN: 3472

East Asian (EAS) AF: 0.112 AC: 582 AN: 5176

South Asian (SAS) AF: 0.133 AC: 641 AN: 4818

European-Finnish (FIN) AF: 0.0644 AC: 681 AN: 10576

Middle Eastern (MID) AF: 0.122 AC: 36 AN: 294

European-Non Finnish (NFE) AF: 0.0546 AC: 3711 AN: 67968

Other (OTH) AF: 0.0896 AC: 189 AN: 2110

Alfa AF: 0.0532 Hom.: 98

Bravo AF: 0.0937

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.2
DANN	Benign	0.37
PhyloP100		-0.16

Splicing

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

Other links and lift over

dbSNP: rs17094201; hg19: chr8-21424290;