rs10501749

Variant names:

• chr11-91081058-A-C
• rs10501749

Your query was ambiguous. Multiple possible variants found:

• chr11-91081058-A-C
• chr11-91081058-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 0.668 in 151,810 control chromosomes in the GnomAD database, including 35,193 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 0.67 (35193 hom., cov: 30)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0290
• Publications: 0 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.775 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: 0.668 AC: 101397 AN: 151692 Hom.: 35165 Cov.: 30

Gnomad AFR AF: 0.464

Gnomad AMI AF: 0.692

Gnomad AMR AF: 0.729

Gnomad ASJ AF: 0.758

Gnomad EAS AF: 0.672

Gnomad SAS AF: 0.796

Gnomad FIN AF: 0.750

Gnomad MID AF: 0.750

Gnomad NFE AF: 0.751

Gnomad OTH AF: 0.686

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

GnomAD4 genome AF: 0.668 AC: 101472 AN: 151810 Hom.: 35193 Cov.: 30 AF XY: 0.671 AC XY: 49796 AN XY: 74162

African (AFR) AF: 0.464 AC: 19202 AN: 41348

American (AMR) AF: 0.729 AC: 11113 AN: 15244

Ashkenazi Jewish (ASJ) AF: 0.758 AC: 2632 AN: 3472

East Asian (EAS) AF: 0.672 AC: 3424 AN: 5098

South Asian (SAS) AF: 0.796 AC: 3842 AN: 4826

European-Finnish (FIN) AF: 0.750 AC: 7912 AN: 10544

Middle Eastern (MID) AF: 0.755 AC: 222 AN: 294

European-Non Finnish (NFE) AF: 0.751 AC: 51044 AN: 67966

Other (OTH) AF: 0.688 AC: 1451 AN: 2108

Alfa AF: 0.729 Hom.: 18836

Bravo AF: 0.652

Asia WGS AF: 0.755 AC: 2624 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	3.3
DANN	Benign	0.50
PhyloP100		-0.029

Splicing

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

Other links and lift over

dbSNP: rs10501749; hg19: chr11-90814226;