rs11033647

Variant names:

• chr11-36473622-C-G
• rs11033647

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 0.141 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
• Publications: 3 publications found

ACMG classification

Our verdict: Benign. The variant received -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.

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: 0.141 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

African (AFR) AF: 0.172 AC: 7124 AN: 41492

American (AMR) AF: 0.0874 AC: 1335 AN: 15282

Ashkenazi Jewish (ASJ) AF: 0.147 AC: 510 AN: 3472

East Asian (EAS) AF: 0.0382 AC: 198 AN: 5178

South Asian (SAS) AF: 0.152 AC: 734 AN: 4824

European-Finnish (FIN) AF: 0.184 AC: 1948 AN: 10574

Middle Eastern (MID) AF: 0.109 AC: 32 AN: 294

European-Non Finnish (NFE) AF: 0.136 AC: 9268 AN: 67992

Other (OTH) AF: 0.127 AC: 268 AN: 2114

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 v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	4.6
DANN	Benign	0.54
PhyloP100		1.1

Splicing

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

Other links and lift over

dbSNP: rs11033647; hg19: chr11-36495172;