rs10809826

Variant names:

• chr9-12682663-C-G
• rs10809826

Your query was ambiguous. Multiple possible variants found:

• chr9-12682663-C-G
• chr9-12682663-C-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 0.427 in 151,930 control chromosomes in the GnomAD database, including 17,598 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 0.43 (17598 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.494

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 (NFE) allele frequency at 95% confidence interval = 0.615 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: 0.427 AC: 64855 AN: 151812 Hom.: 17599 Cov.: 31

Gnomad AFR AF: 0.155

Gnomad AMI AF: 0.458

Gnomad AMR AF: 0.337

Gnomad ASJ AF: 0.485

Gnomad EAS AF: 0.0168

Gnomad SAS AF: 0.219

Gnomad FIN AF: 0.658

Gnomad MID AF: 0.392

Gnomad NFE AF: 0.620

Gnomad OTH AF: 0.431

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

GnomAD4 genome AF: 0.427 AC: 64866 AN: 151930 Hom.: 17598 Cov.: 31 AF XY: 0.420 AC XY: 31183 AN XY: 74248

Gnomad4 AFR AF: 0.155

Gnomad4 AMR AF: 0.337

Gnomad4 ASJ AF: 0.485

Gnomad4 EAS AF: 0.0167

Gnomad4 SAS AF: 0.219

Gnomad4 FIN AF: 0.658

Gnomad4 NFE AF: 0.620

Gnomad4 OTH AF: 0.428

Alfa AF: 0.399 Hom.: 1385

Bravo AF: 0.392

Asia WGS AF: 0.132 AC: 460 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	1.1
DANN	Benign	0.66

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10809826; hg19: chr9-12682663;