rs4246828

Variant names:

• chr8-143087674-G-A
• rs4246828

Your query was ambiguous. Multiple possible variants found:

• chr8-143087674-G-A
• chr8-143087674-G-C
• chr8-143087674-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 0.656 in 152,134 control chromosomes in the GnomAD database, including 35,088 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 0.66 (35088 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.777

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.841 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: 0.656 AC: 99792 AN: 152016 Hom.: 35068 Cov.: 33

Gnomad AFR AF: 0.379

Gnomad AMI AF: 0.885

Gnomad AMR AF: 0.779

Gnomad ASJ AF: 0.768

Gnomad EAS AF: 0.861

Gnomad SAS AF: 0.788

Gnomad FIN AF: 0.778

Gnomad MID AF: 0.715

Gnomad NFE AF: 0.744

Gnomad OTH AF: 0.669

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

GnomAD4 genome AF: 0.656 AC: 99855 AN: 152134 Hom.: 35088 Cov.: 33 AF XY: 0.664 AC XY: 49405 AN XY: 74386

Gnomad4 AFR AF: 0.379

Gnomad4 AMR AF: 0.779

Gnomad4 ASJ AF: 0.768

Gnomad4 EAS AF: 0.862

Gnomad4 SAS AF: 0.788

Gnomad4 FIN AF: 0.778

Gnomad4 NFE AF: 0.744

Gnomad4 OTH AF: 0.674

Alfa AF: 0.743 Hom.: 61637

Bravo AF: 0.647

Asia WGS AF: 0.776 AC: 2694 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	0.12
DANN	Benign	0.76

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4246828; hg19: chr8-144169091;