rs10966811

Variant names:

• chr9-25233486-G-A
• rs10966811

Your query was ambiguous. Multiple possible variants found:

• chr9-25233486-G-A
• chr9-25233486-G-T

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.329 in 151,996 control chromosomes in the GnomAD database, including 9,865 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 0.33 (9865 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.927
• Publications: 6 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.544 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: 0.329 AC: 49972 AN: 151878 Hom.: 9879 Cov.: 33

Gnomad AFR AF: 0.107

Gnomad AMI AF: 0.468

Gnomad AMR AF: 0.377

Gnomad ASJ AF: 0.339

Gnomad EAS AF: 0.563

Gnomad SAS AF: 0.264

Gnomad FIN AF: 0.416

Gnomad MID AF: 0.297

Gnomad NFE AF: 0.424

Gnomad OTH AF: 0.347

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

GnomAD4 genome AF: 0.329 AC: 49948 AN: 151996 Hom.: 9865 Cov.: 33 AF XY: 0.328 AC XY: 24363 AN XY: 74272

African (AFR) AF: 0.107 AC: 4432 AN: 41494

American (AMR) AF: 0.377 AC: 5752 AN: 15268

Ashkenazi Jewish (ASJ) AF: 0.339 AC: 1176 AN: 3470

East Asian (EAS) AF: 0.561 AC: 2884 AN: 5140

South Asian (SAS) AF: 0.265 AC: 1277 AN: 4826

European-Finnish (FIN) AF: 0.416 AC: 4386 AN: 10554

Middle Eastern (MID) AF: 0.293 AC: 86 AN: 294

European-Non Finnish (NFE) AF: 0.424 AC: 28804 AN: 67928

Other (OTH) AF: 0.343 AC: 724 AN: 2110

Alfa AF: 0.382 Hom.: 27972

Bravo AF: 0.322

Asia WGS AF: 0.354 AC: 1229 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.45
DANN	Benign	0.61
PhyloP100		-0.93

Splicing

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

Other links and lift over

dbSNP: rs10966811; hg19: chr9-25233484; COSMIC: COSV60344305;