rs11212733

Variant names:

• chr11-108608096-T-A
• rs11212733

Your query was ambiguous. Multiple possible variants found:

• chr11-108608096-T-A
• chr11-108608096-T-G

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 0.515 in 152,054 control chromosomes in the GnomAD database, including 20,467 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 0.51 (20467 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.349
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.7 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: 0.515 AC: 78217 AN: 151936 Hom.: 20437 Cov.: 32

Gnomad AFR AF: 0.591

Gnomad AMI AF: 0.382

Gnomad AMR AF: 0.512

Gnomad ASJ AF: 0.486

Gnomad EAS AF: 0.720

Gnomad SAS AF: 0.542

Gnomad FIN AF: 0.431

Gnomad MID AF: 0.573

Gnomad NFE AF: 0.468

Gnomad OTH AF: 0.518

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

GnomAD4 genome AF: 0.515 AC: 78297 AN: 152054 Hom.: 20467 Cov.: 32 AF XY: 0.515 AC XY: 38310 AN XY: 74340

African (AFR) AF: 0.591 AC: 24509 AN: 41468

American (AMR) AF: 0.512 AC: 7828 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.486 AC: 1688 AN: 3470

East Asian (EAS) AF: 0.720 AC: 3726 AN: 5178

South Asian (SAS) AF: 0.541 AC: 2604 AN: 4816

European-Finnish (FIN) AF: 0.431 AC: 4549 AN: 10564

Middle Eastern (MID) AF: 0.575 AC: 169 AN: 294

European-Non Finnish (NFE) AF: 0.468 AC: 31776 AN: 67954

Other (OTH) AF: 0.520 AC: 1100 AN: 2114

Alfa AF: 0.487 Hom.: 2261

Bravo AF: 0.522

Asia WGS AF: 0.632 AC: 2198 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	5.4
DANN	Benign	0.80
PhyloP100		0.35

Splicing

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

Other links and lift over

dbSNP: rs11212733; hg19: chr11-108478823;