rs11046263

Variant names:

• chr12-22034857-A-G
• rs11046263

Your query was ambiguous. Multiple possible variants found:

• chr12-22034857-A-G
• chr12-22034857-A-T

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 0.218 in 152,168 control chromosomes in the GnomAD database, including 4,926 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 0.22 (4926 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.349

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.547 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: 0.218 AC: 33123 AN: 152050 Hom.: 4930 Cov.: 32

Gnomad AFR AF: 0.0566

Gnomad AMI AF: 0.204

Gnomad AMR AF: 0.258

Gnomad ASJ AF: 0.160

Gnomad EAS AF: 0.565

Gnomad SAS AF: 0.350

Gnomad FIN AF: 0.444

Gnomad MID AF: 0.0380

Gnomad NFE AF: 0.241

Gnomad OTH AF: 0.201

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

GnomAD4 genome AF: 0.218 AC: 33117 AN: 152168 Hom.: 4926 Cov.: 32 AF XY: 0.231 AC XY: 17217 AN XY: 74384

Gnomad4 AFR AF: 0.0565

Gnomad4 AMR AF: 0.258

Gnomad4 ASJ AF: 0.160

Gnomad4 EAS AF: 0.564

Gnomad4 SAS AF: 0.350

Gnomad4 FIN AF: 0.444

Gnomad4 NFE AF: 0.241

Gnomad4 OTH AF: 0.200

Alfa AF: 0.223 Hom.: 1007

Bravo AF: 0.194

Asia WGS AF: 0.439 AC: 1526 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	5.5
DANN	Benign	0.71

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs11046263; hg19: chr12-22187791;