rs9298211

Variant names:

• chr8-73004583-T-C
• rs9298211

Variant summary

Our verdict is Benign. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.617 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

Gnomad4 AFR AF: 0.512

Gnomad4 AMR AF: 0.549

Gnomad4 ASJ AF: 0.722

Gnomad4 EAS AF: 0.424

Gnomad4 SAS AF: 0.595

Gnomad4 FIN AF: 0.673

Gnomad4 NFE AF: 0.697

Gnomad4 OTH AF: 0.638

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 v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9298211; hg19: chr8-73916818;