rs10832911

Variant names:

• chr11-18254114-G-A
• rs10832911

Your query was ambiguous. Multiple possible variants found:

• chr11-18254114-G-A
• chr11-18254114-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 0.604 in 151,622 control chromosomes in the GnomAD database, including 28,490 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 0.60 (28490 hom., cov: 28)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.439
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.686 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.604 AC: 91548 AN: 151504 Hom.: 28478 Cov.: 28

Gnomad AFR AF: 0.463

Gnomad AMI AF: 0.823

Gnomad AMR AF: 0.696

Gnomad ASJ AF: 0.621

Gnomad EAS AF: 0.449

Gnomad SAS AF: 0.605

Gnomad FIN AF: 0.679

Gnomad MID AF: 0.582

Gnomad NFE AF: 0.665

Gnomad OTH AF: 0.633

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

GnomAD4 genome AF: 0.604 AC: 91590 AN: 151622 Hom.: 28490 Cov.: 28 AF XY: 0.605 AC XY: 44846 AN XY: 74072

African (AFR) AF: 0.462 AC: 19107 AN: 41314

American (AMR) AF: 0.697 AC: 10631 AN: 15256

Ashkenazi Jewish (ASJ) AF: 0.621 AC: 2155 AN: 3468

East Asian (EAS) AF: 0.449 AC: 2307 AN: 5142

South Asian (SAS) AF: 0.605 AC: 2871 AN: 4746

European-Finnish (FIN) AF: 0.679 AC: 7140 AN: 10508

Middle Eastern (MID) AF: 0.592 AC: 174 AN: 294

European-Non Finnish (NFE) AF: 0.665 AC: 45130 AN: 67882

Other (OTH) AF: 0.631 AC: 1326 AN: 2102

Alfa AF: 0.637 Hom.: 43755

Bravo AF: 0.599

Asia WGS AF: 0.501 AC: 1745 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	1.4
DANN	Benign	0.85
PhyloP100		-0.44

Splicing

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

Other links and lift over

dbSNP: rs10832911; hg19: chr11-18275661;