chr8-9783524-A-G

Variant names:

• chr8-9783524-A-G
• rs17150478

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 0.147 in 152,174 control chromosomes in the GnomAD database, including 2,133 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 0.15 (2133 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.48
• Publications: 10 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.182 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: 0.147 AC: 22304 AN: 152054 Hom.: 2134 Cov.: 32

Gnomad AFR AF: 0.0457

Gnomad AMI AF: 0.265

Gnomad AMR AF: 0.154

Gnomad ASJ AF: 0.0783

Gnomad EAS AF: 0.189

Gnomad SAS AF: 0.107

Gnomad FIN AF: 0.302

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.184

Gnomad OTH AF: 0.133

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

GnomAD4 genome AF: 0.147 AC: 22306 AN: 152174 Hom.: 2133 Cov.: 32 AF XY: 0.150 AC XY: 11192 AN XY: 74376

African (AFR) AF: 0.0456 AC: 1894 AN: 41542

American (AMR) AF: 0.154 AC: 2360 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0783 AC: 272 AN: 3472

East Asian (EAS) AF: 0.189 AC: 977 AN: 5174

South Asian (SAS) AF: 0.107 AC: 515 AN: 4828

European-Finnish (FIN) AF: 0.302 AC: 3186 AN: 10546

Middle Eastern (MID) AF: 0.116 AC: 34 AN: 294

European-Non Finnish (NFE) AF: 0.185 AC: 12548 AN: 68008

Other (OTH) AF: 0.132 AC: 278 AN: 2106

Alfa AF: 0.170 Hom.: 3388

Bravo AF: 0.135

Asia WGS AF: 0.137 AC: 477 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.010
DANN	Benign	0.36
PhyloP100		-2.5

Splicing

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

Other links and lift over

dbSNP: rs17150478; hg19: chr8-9641034;