rs10501828

Variant names:

• chr11-95511045-G-A
• rs10501828

Your query was ambiguous. Multiple possible variants found:

• chr11-95511045-G-A
• chr11-95511045-G-C
• chr11-95511045-G-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 0.612 in 152,196 control chromosomes in the GnomAD database, including 30,222 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 0.61 (30222 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.958
• Publications: 3 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 (AFR) allele frequency at 95% confidence interval = 0.822 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: 0.612 AC: 93093 AN: 152078 Hom.: 30171 Cov.: 33

Gnomad AFR AF: 0.829

Gnomad AMI AF: 0.399

Gnomad AMR AF: 0.643

Gnomad ASJ AF: 0.615

Gnomad EAS AF: 0.629

Gnomad SAS AF: 0.582

Gnomad FIN AF: 0.461

Gnomad MID AF: 0.636

Gnomad NFE AF: 0.500

Gnomad OTH AF: 0.616

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

GnomAD4 genome AF: 0.612 AC: 93208 AN: 152196 Hom.: 30222 Cov.: 33 AF XY: 0.612 AC XY: 45541 AN XY: 74414

African (AFR) AF: 0.830 AC: 34470 AN: 41554

American (AMR) AF: 0.644 AC: 9838 AN: 15284

Ashkenazi Jewish (ASJ) AF: 0.615 AC: 2134 AN: 3472

East Asian (EAS) AF: 0.629 AC: 3262 AN: 5182

South Asian (SAS) AF: 0.582 AC: 2801 AN: 4816

European-Finnish (FIN) AF: 0.461 AC: 4881 AN: 10594

Middle Eastern (MID) AF: 0.626 AC: 184 AN: 294

European-Non Finnish (NFE) AF: 0.500 AC: 33982 AN: 67984

Other (OTH) AF: 0.614 AC: 1293 AN: 2106

Alfa AF: 0.501 Hom.: 2633

Bravo AF: 0.636

Asia WGS AF: 0.639 AC: 2218 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	0.11
DANN	Benign	0.41
PhyloP100		-0.96

Splicing

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

Other links and lift over

dbSNP: rs10501828; hg19: chr11-95244209;