11-81524108-G-T

Variant names:

• chr11-81524108-G-T
• rs2032381

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 0.0809 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

ACMG classification

Verdict is Benign. Variant got -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.

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: 0.0811 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

Gnomad4 AFR AF: 0.0464

Gnomad4 AMR AF: 0.0821

Gnomad4 ASJ AF: 0.0682

Gnomad4 EAS AF: 0.266

Gnomad4 SAS AF: 0.180

Gnomad4 FIN AF: 0.0510

Gnomad4 NFE AF: 0.0863

Gnomad4 OTH AF: 0.0875

Alfa AF: 0.0802 Hom.: 79

Bravo AF: 0.0822

Asia WGS AF: 0.172 AC: 596 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs2032381; hg19: chr11-81235150;