rs11228551

Variant names:

• chr11-69187526-T-A
• rs11228551

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 0.24 in 152,100 control chromosomes in the GnomAD database, including 4,845 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 0.24 (4845 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.531

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.297 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: 0.240 AC: 36499 AN: 151982 Hom.: 4846 Cov.: 32

Gnomad AFR AF: 0.187

Gnomad AMI AF: 0.282

Gnomad AMR AF: 0.196

Gnomad ASJ AF: 0.263

Gnomad EAS AF: 0.0173

Gnomad SAS AF: 0.107

Gnomad FIN AF: 0.280

Gnomad MID AF: 0.256

Gnomad NFE AF: 0.300

Gnomad OTH AF: 0.269

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

GnomAD4 genome AF: 0.240 AC: 36511 AN: 152100 Hom.: 4845 Cov.: 32 AF XY: 0.235 AC XY: 17466 AN XY: 74366

Gnomad4 AFR AF: 0.187

Gnomad4 AMR AF: 0.196

Gnomad4 ASJ AF: 0.263

Gnomad4 EAS AF: 0.0174

Gnomad4 SAS AF: 0.107

Gnomad4 FIN AF: 0.280

Gnomad4 NFE AF: 0.300

Gnomad4 OTH AF: 0.268

Alfa AF: 0.271 Hom.: 758

Bravo AF: 0.235

Asia WGS AF: 0.119 AC: 413 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.15
DANN	Benign	0.58

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11228551; hg19: chr11-68954994;