8-94485761-A-G

Variant names:

• chr8-94485761-A-G
• rs3102854

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 0.264 in 152,046 control chromosomes in the GnomAD database, including 5,463 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 0.26 (5463 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0210

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.435 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: 0.264 AC: 40105 AN: 151928 Hom.: 5456 Cov.: 32

Gnomad AFR AF: 0.278

Gnomad AMI AF: 0.224

Gnomad AMR AF: 0.261

Gnomad ASJ AF: 0.274

Gnomad EAS AF: 0.301

Gnomad SAS AF: 0.450

Gnomad FIN AF: 0.212

Gnomad MID AF: 0.354

Gnomad NFE AF: 0.248

Gnomad OTH AF: 0.264

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

GnomAD4 genome AF: 0.264 AC: 40129 AN: 152046 Hom.: 5463 Cov.: 32 AF XY: 0.267 AC XY: 19845 AN XY: 74314

Gnomad4 AFR AF: 0.278

Gnomad4 AMR AF: 0.261

Gnomad4 ASJ AF: 0.274

Gnomad4 EAS AF: 0.301

Gnomad4 SAS AF: 0.451

Gnomad4 FIN AF: 0.212

Gnomad4 NFE AF: 0.248

Gnomad4 OTH AF: 0.263

Alfa AF: 0.258 Hom.: 6893

Bravo AF: 0.263

Asia WGS AF: 0.368 AC: 1280 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.8
DANN	Benign	0.59

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3102854; hg19: chr8-95497989;