8-133574470-A-G

Variant names:

• chr8-133574470-A-G
• rs939024

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.801 in 152,226 control chromosomes in the GnomAD database, including 49,897 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 0.80 (49897 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.294

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.944 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: 0.801 AC: 121857 AN: 152108 Hom.: 49831 Cov.: 33

Gnomad AFR AF: 0.952

Gnomad AMI AF: 0.763

Gnomad AMR AF: 0.816

Gnomad ASJ AF: 0.902

Gnomad EAS AF: 0.511

Gnomad SAS AF: 0.673

Gnomad FIN AF: 0.709

Gnomad MID AF: 0.877

Gnomad NFE AF: 0.746

Gnomad OTH AF: 0.830

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

GnomAD4 genome AF: 0.801 AC: 121986 AN: 152226 Hom.: 49897 Cov.: 33 AF XY: 0.794 AC XY: 59119 AN XY: 74412

Gnomad4 AFR AF: 0.952

Gnomad4 AMR AF: 0.816

Gnomad4 ASJ AF: 0.902

Gnomad4 EAS AF: 0.512

Gnomad4 SAS AF: 0.673

Gnomad4 FIN AF: 0.709

Gnomad4 NFE AF: 0.746

Gnomad4 OTH AF: 0.830

Alfa AF: 0.766 Hom.: 41811

Bravo AF: 0.819

Asia WGS AF: 0.649 AC: 2259 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	4.9
DANN	Benign	0.51

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs939024; hg19: chr8-134586713;