11-67592793-G-T

Variant names:

• chr11-67592793-G-T
• rs11227844

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 0.0524 in 152,244 control chromosomes in the GnomAD database, including 319 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 0.052 (319 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.24

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.73).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0748 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: 0.0525 AC: 7986 AN: 152126 Hom.: 319 Cov.: 33

Gnomad AFR AF: 0.0133

Gnomad AMI AF: 0.0395

Gnomad AMR AF: 0.0454

Gnomad ASJ AF: 0.105

Gnomad EAS AF: 0.000577

Gnomad SAS AF: 0.0124

Gnomad FIN AF: 0.0882

Gnomad MID AF: 0.0854

Gnomad NFE AF: 0.0766

Gnomad OTH AF: 0.0526

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

GnomAD4 genome AF: 0.0524 AC: 7984 AN: 152244 Hom.: 319 Cov.: 33 AF XY: 0.0528 AC XY: 3930 AN XY: 74436

Gnomad4 AFR AF: 0.0133

Gnomad4 AMR AF: 0.0453

Gnomad4 ASJ AF: 0.105

Gnomad4 EAS AF: 0.000578

Gnomad4 SAS AF: 0.0126

Gnomad4 FIN AF: 0.0882

Gnomad4 NFE AF: 0.0766

Gnomad4 OTH AF: 0.0526

Alfa AF: 0.0714 Hom.: 623

Bravo AF: 0.0484

Asia WGS AF: 0.00664 AC: 23 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.73
CADD	Benign	0.96
DANN	Benign	0.92

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11227844; hg19: chr11-67360264;