chr8-118914750-A-G

Variant names:

• chr8-118914750-A-G
• rs4876868

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 0.713 in 152,266 control chromosomes in the GnomAD database, including 40,759 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 0.71 (40759 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0500
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.85).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.843 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.713 AC: 108470 AN: 152148 Hom.: 40742 Cov.: 34

Gnomad AFR AF: 0.453

Gnomad AMI AF: 0.887

Gnomad AMR AF: 0.760

Gnomad ASJ AF: 0.804

Gnomad EAS AF: 0.864

Gnomad SAS AF: 0.830

Gnomad FIN AF: 0.869

Gnomad MID AF: 0.810

Gnomad NFE AF: 0.808

Gnomad OTH AF: 0.755

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

GnomAD4 genome AF: 0.713 AC: 108519 AN: 152266 Hom.: 40759 Cov.: 34 AF XY: 0.719 AC XY: 53513 AN XY: 74454

African (AFR) AF: 0.452 AC: 18800 AN: 41552

American (AMR) AF: 0.760 AC: 11626 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.804 AC: 2790 AN: 3472

East Asian (EAS) AF: 0.864 AC: 4478 AN: 5182

South Asian (SAS) AF: 0.830 AC: 4004 AN: 4824

European-Finnish (FIN) AF: 0.869 AC: 9230 AN: 10616

Middle Eastern (MID) AF: 0.806 AC: 237 AN: 294

European-Non Finnish (NFE) AF: 0.808 AC: 54950 AN: 68010

Other (OTH) AF: 0.755 AC: 1595 AN: 2112

Alfa AF: 0.762 Hom.: 65754

Bravo AF: 0.696

Asia WGS AF: 0.821 AC: 2853 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.85
CADD	Benign	2.7
DANN	Benign	0.43
PhyloP100		0.050

Splicing

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

Other links and lift over

dbSNP: rs4876868; hg19: chr8-119926989;