rs2383208

Variant names:

• chr9-22132077-A-G
• rs2383208

Your query was ambiguous. Multiple possible variants found:

• chr9-22132077-A-G
• chr9-22132077-A-T

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 0.183 in 152,054 control chromosomes in the GnomAD database, including 2,764 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 0.18 (2764 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.292

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.382 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: 0.183 AC: 27758 AN: 151936 Hom.: 2760 Cov.: 30

Gnomad AFR AF: 0.186

Gnomad AMI AF: 0.133

Gnomad AMR AF: 0.175

Gnomad ASJ AF: 0.165

Gnomad EAS AF: 0.396

Gnomad SAS AF: 0.144

Gnomad FIN AF: 0.150

Gnomad MID AF: 0.237

Gnomad NFE AF: 0.175

Gnomad OTH AF: 0.190

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

GnomAD4 genome AF: 0.183 AC: 27781 AN: 152054 Hom.: 2764 Cov.: 30 AF XY: 0.182 AC XY: 13558 AN XY: 74336

Gnomad4 AFR AF: 0.186

Gnomad4 AMR AF: 0.174

Gnomad4 ASJ AF: 0.165

Gnomad4 EAS AF: 0.396

Gnomad4 SAS AF: 0.143

Gnomad4 FIN AF: 0.150

Gnomad4 NFE AF: 0.175

Gnomad4 OTH AF: 0.191

Alfa AF: 0.179 Hom.: 3625

Bravo AF: 0.187

Asia WGS AF: 0.293 AC: 1018 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	2.4
DANN	Benign	0.50

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2383208; hg19: chr9-22132076;