rs10791591

Variant names:

• chr11-102734848-A-G
• rs10791591

Your query was ambiguous. Multiple possible variants found:

• chr11-102734848-A-G
• chr11-102734848-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 0.546 in 152,120 control chromosomes in the GnomAD database, including 22,987 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 0.55 (22987 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.102
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.577 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: 0.546 AC: 82957 AN: 152004 Hom.: 22981 Cov.: 33

Gnomad AFR AF: 0.543

Gnomad AMI AF: 0.482

Gnomad AMR AF: 0.489

Gnomad ASJ AF: 0.616

Gnomad EAS AF: 0.247

Gnomad SAS AF: 0.462

Gnomad FIN AF: 0.569

Gnomad MID AF: 0.642

Gnomad NFE AF: 0.582

Gnomad OTH AF: 0.564

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

GnomAD4 genome AF: 0.546 AC: 82990 AN: 152120 Hom.: 22987 Cov.: 33 AF XY: 0.542 AC XY: 40260 AN XY: 74328

African (AFR) AF: 0.542 AC: 22506 AN: 41498

American (AMR) AF: 0.489 AC: 7470 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.616 AC: 2140 AN: 3472

East Asian (EAS) AF: 0.247 AC: 1283 AN: 5184

South Asian (SAS) AF: 0.461 AC: 2225 AN: 4828

European-Finnish (FIN) AF: 0.569 AC: 6007 AN: 10560

Middle Eastern (MID) AF: 0.639 AC: 188 AN: 294

European-Non Finnish (NFE) AF: 0.582 AC: 39556 AN: 67984

Other (OTH) AF: 0.558 AC: 1177 AN: 2108

Alfa AF: 0.570 Hom.: 106106

Bravo AF: 0.542

Asia WGS AF: 0.362 AC: 1259 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	2.8
DANN	Benign	0.64
PhyloP100		0.10

Splicing

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

Other links and lift over

dbSNP: rs10791591; hg19: chr11-102605579;