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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.546 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

Gnomad4 AFR AF: 0.542

Gnomad4 AMR AF: 0.489

Gnomad4 ASJ AF: 0.616

Gnomad4 EAS AF: 0.247

Gnomad4 SAS AF: 0.461

Gnomad4 FIN AF: 0.569

Gnomad4 NFE AF: 0.582

Gnomad4 OTH AF: 0.558

Alfa AF: 0.573 Hom.: 50424

Bravo AF: 0.542

Asia WGS AF: 0.362 AC: 1259 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs10791591; hg19: chr11-102605579;