rs4288398

Variant names:

• chr8-7024116-A-G
• rs4288398

Your query was ambiguous. Multiple possible variants found:

• chr8-7024116-A-G
• chr8-7024116-A-T

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 0.701 in 152,044 control chromosomes in the GnomAD database, including 38,268 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 0.70 (38268 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -3.30
• Publications: 6 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.865 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: 0.700 AC: 106418 AN: 151926 Hom.: 38207 Cov.: 32

Gnomad AFR AF: 0.872

Gnomad AMI AF: 0.630

Gnomad AMR AF: 0.665

Gnomad ASJ AF: 0.618

Gnomad EAS AF: 0.625

Gnomad SAS AF: 0.682

Gnomad FIN AF: 0.603

Gnomad MID AF: 0.696

Gnomad NFE AF: 0.632

Gnomad OTH AF: 0.674

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

GnomAD4 genome AF: 0.701 AC: 106544 AN: 152044 Hom.: 38268 Cov.: 32 AF XY: 0.696 AC XY: 51743 AN XY: 74318

African (AFR) AF: 0.873 AC: 36233 AN: 41524

American (AMR) AF: 0.665 AC: 10175 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.618 AC: 2145 AN: 3470

East Asian (EAS) AF: 0.626 AC: 3217 AN: 5140

South Asian (SAS) AF: 0.683 AC: 3286 AN: 4814

European-Finnish (FIN) AF: 0.603 AC: 6371 AN: 10566

Middle Eastern (MID) AF: 0.707 AC: 208 AN: 294

European-Non Finnish (NFE) AF: 0.632 AC: 42917 AN: 67922

Other (OTH) AF: 0.672 AC: 1421 AN: 2114

Alfa AF: 0.651 Hom.: 51582

Bravo AF: 0.712

Asia WGS AF: 0.615 AC: 2144 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	0.53
DANN	Benign	0.38
PhyloP100		-3.3

Splicing

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

Other links and lift over

dbSNP: rs4288398; hg19: chr8-6881638;