8-46334293-G-A

Variant names:

• chr8-46334293-G-A
• rs359819

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 0.821 in 151,390 control chromosomes in the GnomAD database, including 53,655 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 0.82 (53655 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: No conservation score assigned
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.958 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: 0.821 AC: 124224 AN: 151272 Hom.: 53646 Cov.: 30

Gnomad AFR AF: 0.531

Gnomad AMI AF: 0.990

Gnomad AMR AF: 0.813

Gnomad ASJ AF: 0.905

Gnomad EAS AF: 0.863

Gnomad SAS AF: 0.858

Gnomad FIN AF: 0.959

Gnomad MID AF: 0.891

Gnomad NFE AF: 0.964

Gnomad OTH AF: 0.838

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

GnomAD4 genome AF: 0.821 AC: 124269 AN: 151390 Hom.: 53655 Cov.: 30 AF XY: 0.821 AC XY: 60754 AN XY: 73962

African (AFR) AF: 0.531 AC: 21850 AN: 41164

American (AMR) AF: 0.813 AC: 12387 AN: 15238

Ashkenazi Jewish (ASJ) AF: 0.905 AC: 3130 AN: 3458

East Asian (EAS) AF: 0.863 AC: 4390 AN: 5086

South Asian (SAS) AF: 0.859 AC: 4117 AN: 4792

European-Finnish (FIN) AF: 0.959 AC: 10104 AN: 10538

Middle Eastern (MID) AF: 0.887 AC: 259 AN: 292

European-Non Finnish (NFE) AF: 0.964 AC: 65367 AN: 67808

Other (OTH) AF: 0.838 AC: 1764 AN: 2104

Alfa AF: 0.871 Hom.: 7337

Bravo AF: 0.795

Asia WGS AF: 0.807 AC: 2807 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	6.2
DANN	Benign	0.71

Splicing

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

Other links and lift over

dbSNP: rs359819; hg19: chr8-47245915;