8-127516288-G-A

Variant names:

• chr8-127516288-G-A
• rs4641026

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 0.811 in 151,982 control chromosomes in the GnomAD database, including 50,661 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 0.81 (50661 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.127
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.02).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.875 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt

Frequencies

GnomAD3 genomes AF: 0.812 AC: 123247 AN: 151864 Hom.: 50639 Cov.: 32

Gnomad AFR AF: 0.678

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.843

Gnomad ASJ AF: 0.922

Gnomad EAS AF: 0.762

Gnomad SAS AF: 0.828

Gnomad FIN AF: 0.807

Gnomad MID AF: 0.905

Gnomad NFE AF: 0.881

Gnomad OTH AF: 0.847

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

GnomAD4 genome AF: 0.811 AC: 123313 AN: 151982 Hom.: 50661 Cov.: 32 AF XY: 0.810 AC XY: 60176 AN XY: 74282

African (AFR) AF: 0.678 AC: 28092 AN: 41448

American (AMR) AF: 0.842 AC: 12869 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.922 AC: 3201 AN: 3472

East Asian (EAS) AF: 0.762 AC: 3951 AN: 5184

South Asian (SAS) AF: 0.829 AC: 3991 AN: 4816

European-Finnish (FIN) AF: 0.807 AC: 8456 AN: 10474

Middle Eastern (MID) AF: 0.912 AC: 268 AN: 294

European-Non Finnish (NFE) AF: 0.881 AC: 59884 AN: 67990

Other (OTH) AF: 0.841 AC: 1777 AN: 2112

Alfa AF: 0.850 Hom.: 15426

Bravo AF: 0.807

Asia WGS AF: 0.743 AC: 2567 AN: 3452

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.0
DANN	Benign	0.50
PhyloP100		-0.13

Splicing

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

Other links and lift over

dbSNP: rs4641026; hg19: chr8-128528533;