rs11033647

Positions:

• chr11-36473622-C-G

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 0.141 in 152,134 control chromosomes in the GnomAD database, including 1,610 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 0.14 (1610 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.08

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.168 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.141 AC: 21435 AN: 152016 Hom.: 1608 Cov.: 33

Gnomad AFR AF: 0.172

Gnomad AMI AF: 0.0351

Gnomad AMR AF: 0.0876

Gnomad ASJ AF: 0.147

Gnomad EAS AF: 0.0378

Gnomad SAS AF: 0.151

Gnomad FIN AF: 0.184

Gnomad MID AF: 0.111

Gnomad NFE AF: 0.136

Gnomad OTH AF: 0.128

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

GnomAD4 genome AF: 0.141 AC: 21449 AN: 152134 Hom.: 1610 Cov.: 33 AF XY: 0.140 AC XY: 10446 AN XY: 74356

Gnomad4 AFR AF: 0.172

Gnomad4 AMR AF: 0.0874

Gnomad4 ASJ AF: 0.147

Gnomad4 EAS AF: 0.0382

Gnomad4 SAS AF: 0.152

Gnomad4 FIN AF: 0.184

Gnomad4 NFE AF: 0.136

Gnomad4 OTH AF: 0.127

Alfa AF: 0.144 Hom.: 221

Bravo AF: 0.132

Asia WGS AF: 0.0860 AC: 298 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	4.6
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11033647; hg19: chr11-36495172;