rs10809650

Variant names:

• chr9-1202371-A-G
• rs10809650

Your query was ambiguous. Multiple possible variants found:

• chr9-1202371-A-G
• chr9-1202371-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 0.266 in 151,448 control chromosomes in the GnomAD database, including 6,311 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 0.27 (6311 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.479

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.56).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.523 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: 0.266 AC: 40240 AN: 151330 Hom.: 6297 Cov.: 30

Gnomad AFR AF: 0.137

Gnomad AMI AF: 0.247

Gnomad AMR AF: 0.404

Gnomad ASJ AF: 0.187

Gnomad EAS AF: 0.539

Gnomad SAS AF: 0.243

Gnomad FIN AF: 0.400

Gnomad MID AF: 0.272

Gnomad NFE AF: 0.277

Gnomad OTH AF: 0.278

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

GnomAD4 genome AF: 0.266 AC: 40296 AN: 151448 Hom.: 6311 Cov.: 30 AF XY: 0.275 AC XY: 20338 AN XY: 73952

Gnomad4 AFR AF: 0.137

Gnomad4 AMR AF: 0.405

Gnomad4 ASJ AF: 0.187

Gnomad4 EAS AF: 0.540

Gnomad4 SAS AF: 0.244

Gnomad4 FIN AF: 0.400

Gnomad4 NFE AF: 0.278

Gnomad4 OTH AF: 0.282

Alfa AF: 0.275 Hom.: 10269

Bravo AF: 0.265

Asia WGS AF: 0.376 AC: 1302 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.56
CADD	Benign	15
DANN	Benign	0.87

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10809650; hg19: chr9-1202371;