rs359819

Positions:

• chr8-46334293-G-A
• chr8-46334293-G-C
• chr8-46334293-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 0.821 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

ACMG classification

Verdict is Benign. Variant got -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/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	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

Gnomad4 AFR AF: 0.531

Gnomad4 AMR AF: 0.813

Gnomad4 ASJ AF: 0.905

Gnomad4 EAS AF: 0.863

Gnomad4 SAS AF: 0.859

Gnomad4 FIN AF: 0.959

Gnomad4 NFE AF: 0.964

Gnomad4 OTH AF: 0.838

Alfa AF: 0.885 Hom.: 7223

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

Publications

LitVar

Other links and lift over

dbSNP: rs359819; hg19: chr8-47245915;