rs9298211

Variant names:

• chr8-73004583-T-C
• rs9298211

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 0.617 in 150,472 control chromosomes in the GnomAD database, including 29,224 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 0.62 (29224 hom., cov: 27)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.609
• Publications: 3 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.99).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.692 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: 0.617 AC: 92741 AN: 150356 Hom.: 29227 Cov.: 27

Gnomad AFR AF: 0.512

Gnomad AMI AF: 0.518

Gnomad AMR AF: 0.549

Gnomad ASJ AF: 0.722

Gnomad EAS AF: 0.425

Gnomad SAS AF: 0.595

Gnomad FIN AF: 0.673

Gnomad MID AF: 0.763

Gnomad NFE AF: 0.697

Gnomad OTH AF: 0.639

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

GnomAD4 genome AF: 0.617 AC: 92776 AN: 150472 Hom.: 29224 Cov.: 27 AF XY: 0.613 AC XY: 45012 AN XY: 73408

African (AFR) AF: 0.512 AC: 20935 AN: 40880

American (AMR) AF: 0.549 AC: 8292 AN: 15102

Ashkenazi Jewish (ASJ) AF: 0.722 AC: 2499 AN: 3460

East Asian (EAS) AF: 0.424 AC: 2149 AN: 5074

South Asian (SAS) AF: 0.595 AC: 2822 AN: 4744

European-Finnish (FIN) AF: 0.673 AC: 6870 AN: 10204

Middle Eastern (MID) AF: 0.759 AC: 223 AN: 294

European-Non Finnish (NFE) AF: 0.697 AC: 47188 AN: 67724

Other (OTH) AF: 0.638 AC: 1328 AN: 2082

Alfa AF: 0.645 Hom.: 4014

Bravo AF: 0.603

Asia WGS AF: 0.518 AC: 1801 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.99
CADD	Benign	1.1
DANN	Benign	0.73
PhyloP100		-0.61

Splicing

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

Other links and lift over

dbSNP: rs9298211; hg19: chr8-73916818;