chr11-86156833-A-G

Variant names:

• chr11-86156833-A-G
• rs10792832

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 0.695 in 152,112 control chromosomes in the GnomAD database, including 37,559 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 0.70 (37559 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.467
• Publications: 127 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.852 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: 0.695 AC: 105649 AN: 151994 Hom.: 37516 Cov.: 32

Gnomad AFR AF: 0.860

Gnomad AMI AF: 0.521

Gnomad AMR AF: 0.637

Gnomad ASJ AF: 0.610

Gnomad EAS AF: 0.603

Gnomad SAS AF: 0.610

Gnomad FIN AF: 0.647

Gnomad MID AF: 0.611

Gnomad NFE AF: 0.636

Gnomad OTH AF: 0.685

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

GnomAD4 genome AF: 0.695 AC: 105752 AN: 152112 Hom.: 37559 Cov.: 32 AF XY: 0.692 AC XY: 51483 AN XY: 74350

African (AFR) AF: 0.860 AC: 35693 AN: 41518

American (AMR) AF: 0.637 AC: 9723 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.610 AC: 2114 AN: 3468

East Asian (EAS) AF: 0.602 AC: 3116 AN: 5178

South Asian (SAS) AF: 0.612 AC: 2954 AN: 4824

European-Finnish (FIN) AF: 0.647 AC: 6841 AN: 10566

Middle Eastern (MID) AF: 0.616 AC: 181 AN: 294

European-Non Finnish (NFE) AF: 0.636 AC: 43210 AN: 67966

Other (OTH) AF: 0.684 AC: 1445 AN: 2112

Alfa AF: 0.666 Hom.: 55487

Bravo AF: 0.700

Asia WGS AF: 0.602 AC: 2095 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	5.2
DANN	Benign	0.75
PhyloP100		0.47

Splicing

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

Other links and lift over

dbSNP: rs10792832; hg19: chr11-85867875;