11-81524108-G-T

Variant names:

• chr11-81524108-G-T
• rs2032381

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 0.0809 in 151,756 control chromosomes in the GnomAD database, including 640 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 0.081 (640 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.49
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.255 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.0811 AC: 12296 AN: 151638 Hom.: 643 Cov.: 32

Gnomad AFR AF: 0.0464

Gnomad AMI AF: 0.0461

Gnomad AMR AF: 0.0821

Gnomad ASJ AF: 0.0682

Gnomad EAS AF: 0.267

Gnomad SAS AF: 0.182

Gnomad FIN AF: 0.0510

Gnomad MID AF: 0.0791

Gnomad NFE AF: 0.0863

Gnomad OTH AF: 0.0898

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

GnomAD4 genome AF: 0.0809 AC: 12280 AN: 151756 Hom.: 640 Cov.: 32 AF XY: 0.0812 AC XY: 6023 AN XY: 74188

African (AFR) AF: 0.0464 AC: 1926 AN: 41498

American (AMR) AF: 0.0821 AC: 1244 AN: 15152

Ashkenazi Jewish (ASJ) AF: 0.0682 AC: 236 AN: 3458

East Asian (EAS) AF: 0.266 AC: 1370 AN: 5144

South Asian (SAS) AF: 0.180 AC: 867 AN: 4818

European-Finnish (FIN) AF: 0.0510 AC: 541 AN: 10598

Middle Eastern (MID) AF: 0.0748 AC: 22 AN: 294

European-Non Finnish (NFE) AF: 0.0863 AC: 5848 AN: 67778

Other (OTH) AF: 0.0875 AC: 184 AN: 2104

Alfa AF: 0.0717 Hom.: 177

Bravo AF: 0.0822

Asia WGS AF: 0.172 AC: 596 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	0.32
DANN	Benign	0.67
PhyloP100		-1.5

Splicing

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

Other links and lift over

dbSNP: rs2032381; hg19: chr11-81235150;