rs9297181

Variant names:

• chr8-30019089-G-A
• rs9297181

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 0.213 in 152,030 control chromosomes in the GnomAD database, including 3,747 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 0.21 (3747 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.648

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.305 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: 0.213 AC: 32305 AN: 151912 Hom.: 3744 Cov.: 32

Gnomad AFR AF: 0.286

Gnomad AMI AF: 0.105

Gnomad AMR AF: 0.185

Gnomad ASJ AF: 0.194

Gnomad EAS AF: 0.317

Gnomad SAS AF: 0.174

Gnomad FIN AF: 0.130

Gnomad MID AF: 0.231

Gnomad NFE AF: 0.184

Gnomad OTH AF: 0.208

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

GnomAD4 genome AF: 0.213 AC: 32341 AN: 152030 Hom.: 3747 Cov.: 32 AF XY: 0.210 AC XY: 15572 AN XY: 74316

Gnomad4 AFR AF: 0.286

Gnomad4 AMR AF: 0.185

Gnomad4 ASJ AF: 0.194

Gnomad4 EAS AF: 0.317

Gnomad4 SAS AF: 0.177

Gnomad4 FIN AF: 0.130

Gnomad4 NFE AF: 0.184

Gnomad4 OTH AF: 0.204

Alfa AF: 0.188 Hom.: 3754

Bravo AF: 0.222

Asia WGS AF: 0.193 AC: 676 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	6.4
DANN	Benign	0.81

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9297181; hg19: chr8-29876605;