8-94485761-A-G

Variant names:

• chr8-94485761-A-G
• rs3102854

Variant summary

Our verdict is Benign. The variant received -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
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -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

African (AFR) AF: 0.278 AC: 11509 AN: 41450

American (AMR) AF: 0.261 AC: 3983 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.274 AC: 950 AN: 3468

East Asian (EAS) AF: 0.301 AC: 1556 AN: 5166

South Asian (SAS) AF: 0.451 AC: 2170 AN: 4814

European-Finnish (FIN) AF: 0.212 AC: 2241 AN: 10572

Middle Eastern (MID) AF: 0.333 AC: 98 AN: 294

European-Non Finnish (NFE) AF: 0.248 AC: 16862 AN: 67968

Other (OTH) AF: 0.263 AC: 556 AN: 2114

Alfa AF: 0.258 Hom.: 8777

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
PhyloP100		0.021

Splicing

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

Other links and lift over

dbSNP: rs3102854; hg19: chr8-95497989;