chr8-94485761-A-G

Position:

• chr8-94485761-A-G

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;