rs1824863

Variant names:

• chr8-2236356-A-G
• rs1824863

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 0.112 in 151,538 control chromosomes in the GnomAD database, including 1,549 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 (1549 hom., cov: 35)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -2.09
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (Cadd=0.023).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.256 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: 0.112 AC: 16990 AN: 151416 Hom.: 1547 Cov.: 35

Gnomad AFR AF: 0.259

Gnomad AMI AF: 0.0373

Gnomad AMR AF: 0.0536

Gnomad ASJ AF: 0.0518

Gnomad EAS AF: 0.0666

Gnomad SAS AF: 0.0789

Gnomad FIN AF: 0.0759

Gnomad MID AF: 0.0764

Gnomad NFE AF: 0.0531

Gnomad OTH AF: 0.0892

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

GnomAD4 genome AF: 0.112 AC: 17026 AN: 151538 Hom.: 1549 Cov.: 35 AF XY: 0.112 AC XY: 8274 AN XY: 74098

African (AFR) AF: 0.260 AC: 10657 AN: 41044

American (AMR) AF: 0.0535 AC: 817 AN: 15270

Ashkenazi Jewish (ASJ) AF: 0.0518 AC: 179 AN: 3456

East Asian (EAS) AF: 0.0666 AC: 345 AN: 5184

South Asian (SAS) AF: 0.0789 AC: 380 AN: 4816

European-Finnish (FIN) AF: 0.0759 AC: 804 AN: 10588

Middle Eastern (MID) AF: 0.0788 AC: 23 AN: 292

European-Non Finnish (NFE) AF: 0.0531 AC: 3603 AN: 67868

Other (OTH) AF: 0.0873 AC: 184 AN: 2108

Alfa AF: 0.0766 Hom.: 257

Bravo AF: 0.118

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
CADD	Benign	0.023
PhyloP100		-2.1

Splicing

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

Other links and lift over

dbSNP: rs1824863; hg19: -;