8-92286476-G-T

Position:

• chr8-92286476-G-T

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 0.0652 in 152,176 control chromosomes in the GnomAD database, including 454 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 0.065 (454 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.146

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0999 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.0653 AC: 9927 AN: 152058 Hom.: 454 Cov.: 32

Gnomad AFR AF: 0.0156

Gnomad AMI AF: 0.138

Gnomad AMR AF: 0.0737

Gnomad ASJ AF: 0.0334

Gnomad EAS AF: 0.00154

Gnomad SAS AF: 0.108

Gnomad FIN AF: 0.0831

Gnomad MID AF: 0.0728

Gnomad NFE AF: 0.0937

Gnomad OTH AF: 0.0540

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

GnomAD4 genome AF: 0.0652 AC: 9924 AN: 152176 Hom.: 454 Cov.: 32 AF XY: 0.0641 AC XY: 4771 AN XY: 74394

Gnomad4 AFR AF: 0.0155

Gnomad4 AMR AF: 0.0737

Gnomad4 ASJ AF: 0.0334

Gnomad4 EAS AF: 0.00155

Gnomad4 SAS AF: 0.108

Gnomad4 FIN AF: 0.0831

Gnomad4 NFE AF: 0.0937

Gnomad4 OTH AF: 0.0535

Alfa AF: 0.0776 Hom.: 107

Bravo AF: 0.0625

Asia WGS AF: 0.0420 AC: 146 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.47
DANN	Benign	0.30

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs12544183; hg19: chr8-93298704;