8-11483620-G-C

Variant names:

• chr8-11483620-G-C
• rs2254891

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 0.725 in 152,144 control chromosomes in the GnomAD database, including 40,469 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 0.72 (40469 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.23
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.824 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: 0.725 AC: 110144 AN: 152024 Hom.: 40414 Cov.: 32

Gnomad AFR AF: 0.831

Gnomad AMI AF: 0.601

Gnomad AMR AF: 0.776

Gnomad ASJ AF: 0.735

Gnomad EAS AF: 0.729

Gnomad SAS AF: 0.717

Gnomad FIN AF: 0.550

Gnomad MID AF: 0.774

Gnomad NFE AF: 0.676

Gnomad OTH AF: 0.729

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

GnomAD4 genome AF: 0.725 AC: 110263 AN: 152144 Hom.: 40469 Cov.: 32 AF XY: 0.720 AC XY: 53566 AN XY: 74382

African (AFR) AF: 0.831 AC: 34524 AN: 41528

American (AMR) AF: 0.776 AC: 11872 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.735 AC: 2552 AN: 3470

East Asian (EAS) AF: 0.730 AC: 3771 AN: 5168

South Asian (SAS) AF: 0.717 AC: 3457 AN: 4822

European-Finnish (FIN) AF: 0.550 AC: 5822 AN: 10576

Middle Eastern (MID) AF: 0.771 AC: 225 AN: 292

European-Non Finnish (NFE) AF: 0.676 AC: 45945 AN: 67972

Other (OTH) AF: 0.732 AC: 1548 AN: 2114

Alfa AF: 0.698 Hom.: 4399

Bravo AF: 0.746

Asia WGS AF: 0.765 AC: 2661 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	0.66
DANN	Benign	0.46
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs2254891; hg19: chr8-11341129;