rs4823511

Variant names:

• chr22-48049404-G-A
• rs4823511

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 0.794 in 152,038 control chromosomes in the GnomAD database, including 48,086 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 0.79 (48086 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.416
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.842 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: 0.794 AC: 120689 AN: 151918 Hom.: 48060 Cov.: 31

Gnomad AFR AF: 0.849

Gnomad AMI AF: 0.766

Gnomad AMR AF: 0.796

Gnomad ASJ AF: 0.771

Gnomad EAS AF: 0.793

Gnomad SAS AF: 0.859

Gnomad FIN AF: 0.729

Gnomad MID AF: 0.791

Gnomad NFE AF: 0.768

Gnomad OTH AF: 0.801

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

GnomAD4 genome AF: 0.794 AC: 120769 AN: 152038 Hom.: 48086 Cov.: 31 AF XY: 0.794 AC XY: 59019 AN XY: 74296

African (AFR) AF: 0.849 AC: 35216 AN: 41476

American (AMR) AF: 0.796 AC: 12168 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.771 AC: 2678 AN: 3472

East Asian (EAS) AF: 0.794 AC: 4093 AN: 5156

South Asian (SAS) AF: 0.859 AC: 4139 AN: 4818

European-Finnish (FIN) AF: 0.729 AC: 7682 AN: 10542

Middle Eastern (MID) AF: 0.789 AC: 232 AN: 294

European-Non Finnish (NFE) AF: 0.768 AC: 52187 AN: 67976

Other (OTH) AF: 0.797 AC: 1677 AN: 2104

Alfa AF: 0.777 Hom.: 100932

Bravo AF: 0.796

Asia WGS AF: 0.786 AC: 2734 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	0.84
DANN	Benign	0.67
PhyloP100		-0.42

Splicing

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

Other links and lift over

dbSNP: rs4823511; hg19: chr22-48445221;