chr8-93068803-A-G

Variant names:

• chr8-93068803-A-G
• rs1472747

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 0.116 in 151,854 control chromosomes in the GnomAD database, including 1,240 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 0.12 (1240 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.342

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.307 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: 0.116 AC: 17661 AN: 151740 Hom.: 1240 Cov.: 32

Gnomad AFR AF: 0.127

Gnomad AMI AF: 0.114

Gnomad AMR AF: 0.165

Gnomad ASJ AF: 0.143

Gnomad EAS AF: 0.320

Gnomad SAS AF: 0.181

Gnomad FIN AF: 0.0553

Gnomad MID AF: 0.201

Gnomad NFE AF: 0.0863

Gnomad OTH AF: 0.135

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

GnomAD4 genome AF: 0.116 AC: 17666 AN: 151854 Hom.: 1240 Cov.: 32 AF XY: 0.118 AC XY: 8742 AN XY: 74240

Gnomad4 AFR AF: 0.126

Gnomad4 AMR AF: 0.165

Gnomad4 ASJ AF: 0.143

Gnomad4 EAS AF: 0.320

Gnomad4 SAS AF: 0.180

Gnomad4 FIN AF: 0.0553

Gnomad4 NFE AF: 0.0864

Gnomad4 OTH AF: 0.138

Alfa AF: 0.0987 Hom.: 139

Bravo AF: 0.127

Asia WGS AF: 0.253 AC: 876 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	0.88
DANN	Benign	0.74

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1472747; hg19: chr8-94081031;