rs10792828

Variant names:

• chr11-86115755-A-G
• rs10792828

Your query was ambiguous. Multiple possible variants found:

• chr11-86115755-A-G
• chr11-86115755-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 0.0963 in 152,294 control chromosomes in the GnomAD database, including 1,032 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 0.096 (1032 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.15
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.82).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.361 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: 0.0963 AC: 14661 AN: 152176 Hom.: 1031 Cov.: 32

Gnomad AFR AF: 0.0288

Gnomad AMI AF: 0.0570

Gnomad AMR AF: 0.128

Gnomad ASJ AF: 0.0703

Gnomad EAS AF: 0.375

Gnomad SAS AF: 0.169

Gnomad FIN AF: 0.102

Gnomad MID AF: 0.0570

Gnomad NFE AF: 0.105

Gnomad OTH AF: 0.0872

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

GnomAD4 genome AF: 0.0963 AC: 14664 AN: 152294 Hom.: 1032 Cov.: 32 AF XY: 0.0991 AC XY: 7381 AN XY: 74464

African (AFR) AF: 0.0287 AC: 1194 AN: 41568

American (AMR) AF: 0.128 AC: 1964 AN: 15292

Ashkenazi Jewish (ASJ) AF: 0.0703 AC: 244 AN: 3472

East Asian (EAS) AF: 0.375 AC: 1940 AN: 5176

South Asian (SAS) AF: 0.169 AC: 816 AN: 4820

European-Finnish (FIN) AF: 0.102 AC: 1085 AN: 10624

Middle Eastern (MID) AF: 0.0544 AC: 16 AN: 294

European-Non Finnish (NFE) AF: 0.105 AC: 7161 AN: 68026

Other (OTH) AF: 0.0910 AC: 192 AN: 2110

Alfa AF: 0.0543 Hom.: 69

Bravo AF: 0.0945

Asia WGS AF: 0.262 AC: 909 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.82
CADD	Benign	6.0
DANN	Benign	0.77
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs10792828; hg19: chr11-85826797;