rs4841593

Variant names:

• chr8-11768352-G-C
• rs4841593

Your query was ambiguous. Multiple possible variants found:

• chr8-11768352-G-C
• chr8-11768352-G-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 0.106 in 151,810 control chromosomes in the GnomAD database, including 1,063 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 0.11 (1063 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.431
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.182 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: 0.106 AC: 16042 AN: 151692 Hom.: 1060 Cov.: 31

Gnomad AFR AF: 0.186

Gnomad AMI AF: 0.0252

Gnomad AMR AF: 0.0667

Gnomad ASJ AF: 0.183

Gnomad EAS AF: 0.000774

Gnomad SAS AF: 0.0429

Gnomad FIN AF: 0.0824

Gnomad MID AF: 0.0854

Gnomad NFE AF: 0.0798

Gnomad OTH AF: 0.0932

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

GnomAD4 genome AF: 0.106 AC: 16061 AN: 151810 Hom.: 1063 Cov.: 31 AF XY: 0.104 AC XY: 7707 AN XY: 74192

African (AFR) AF: 0.185 AC: 7667 AN: 41336

American (AMR) AF: 0.0665 AC: 1016 AN: 15276

Ashkenazi Jewish (ASJ) AF: 0.183 AC: 635 AN: 3468

East Asian (EAS) AF: 0.000775 AC: 4 AN: 5158

South Asian (SAS) AF: 0.0433 AC: 208 AN: 4800

European-Finnish (FIN) AF: 0.0824 AC: 869 AN: 10550

Middle Eastern (MID) AF: 0.0918 AC: 27 AN: 294

European-Non Finnish (NFE) AF: 0.0798 AC: 5419 AN: 67912

Other (OTH) AF: 0.0917 AC: 193 AN: 2104

Alfa AF: 0.0403 Hom.: 33

Bravo AF: 0.108

Asia WGS AF: 0.0320 AC: 112 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	3.0
DANN	Benign	0.49
PhyloP100		0.43

Splicing

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

Other links and lift over

dbSNP: rs4841593; hg19: chr8-11625861;