rs10832087

Variant names:

• chr11-13607471-A-G
• rs10832087

Your query was ambiguous. Multiple possible variants found:

• chr11-13607471-A-G
• chr11-13607471-A-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 0.319 in 151,564 control chromosomes in the GnomAD database, including 8,200 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 0.32 (8200 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.986
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.53 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: 0.319 AC: 48263 AN: 151450 Hom.: 8189 Cov.: 32

Gnomad AFR AF: 0.253

Gnomad AMI AF: 0.289

Gnomad AMR AF: 0.358

Gnomad ASJ AF: 0.399

Gnomad EAS AF: 0.547

Gnomad SAS AF: 0.332

Gnomad FIN AF: 0.285

Gnomad MID AF: 0.297

Gnomad NFE AF: 0.332

Gnomad OTH AF: 0.329

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

GnomAD4 genome AF: 0.319 AC: 48290 AN: 151564 Hom.: 8200 Cov.: 32 AF XY: 0.319 AC XY: 23687 AN XY: 74140

African (AFR) AF: 0.253 AC: 10353 AN: 40968

American (AMR) AF: 0.358 AC: 5471 AN: 15272

Ashkenazi Jewish (ASJ) AF: 0.399 AC: 1385 AN: 3472

East Asian (EAS) AF: 0.547 AC: 2829 AN: 5170

South Asian (SAS) AF: 0.333 AC: 1606 AN: 4828

European-Finnish (FIN) AF: 0.285 AC: 3014 AN: 10588

Middle Eastern (MID) AF: 0.289 AC: 85 AN: 294

European-Non Finnish (NFE) AF: 0.332 AC: 22584 AN: 67954

Other (OTH) AF: 0.332 AC: 700 AN: 2108

Alfa AF: 0.329 Hom.: 13686

Bravo AF: 0.323

Asia WGS AF: 0.418 AC: 1450 AN: 3474

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
CADD	Benign	9.6
DANN	Benign	0.68
PhyloP100		0.99

Splicing

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

Other links and lift over

dbSNP: rs10832087; hg19: chr11-13629018;