8-116544032-A-G

Variant names:

• chr8-116544032-A-G
• rs4876662

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 0.77 in 152,156 control chromosomes in the GnomAD database, including 45,570 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 0.77 (45570 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.10
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.0).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.809 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: 0.770 AC: 117077 AN: 152038 Hom.: 45527 Cov.: 32

Gnomad AFR AF: 0.816

Gnomad AMI AF: 0.622

Gnomad AMR AF: 0.662

Gnomad ASJ AF: 0.808

Gnomad EAS AF: 0.484

Gnomad SAS AF: 0.666

Gnomad FIN AF: 0.760

Gnomad MID AF: 0.782

Gnomad NFE AF: 0.797

Gnomad OTH AF: 0.782

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

GnomAD4 genome AF: 0.770 AC: 117172 AN: 152156 Hom.: 45570 Cov.: 32 AF XY: 0.763 AC XY: 56775 AN XY: 74390

African (AFR) AF: 0.816 AC: 33870 AN: 41502

American (AMR) AF: 0.662 AC: 10113 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.808 AC: 2806 AN: 3472

East Asian (EAS) AF: 0.483 AC: 2499 AN: 5178

South Asian (SAS) AF: 0.666 AC: 3216 AN: 4830

European-Finnish (FIN) AF: 0.760 AC: 8047 AN: 10586

Middle Eastern (MID) AF: 0.789 AC: 232 AN: 294

European-Non Finnish (NFE) AF: 0.797 AC: 54164 AN: 67984

Other (OTH) AF: 0.784 AC: 1658 AN: 2114

Alfa AF: 0.779 Hom.: 94633

Bravo AF: 0.764

Asia WGS AF: 0.633 AC: 2206 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	1.5
DANN	Benign	0.56
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs4876662; hg19: chr8-117556270;