11-32881772-C-G

Variant names:

• chr11-32881772-C-G
• rs4755455

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 0.82 in 152,174 control chromosomes in the GnomAD database, including 51,450 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 0.82 (51450 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.180
• Publications: 4 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.93).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.971 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: 0.820 AC: 124704 AN: 152056 Hom.: 51415 Cov.: 32

Gnomad AFR AF: 0.743

Gnomad AMI AF: 0.898

Gnomad AMR AF: 0.851

Gnomad ASJ AF: 0.875

Gnomad EAS AF: 0.994

Gnomad SAS AF: 0.905

Gnomad FIN AF: 0.887

Gnomad MID AF: 0.820

Gnomad NFE AF: 0.827

Gnomad OTH AF: 0.798

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

GnomAD4 genome AF: 0.820 AC: 124795 AN: 152174 Hom.: 51450 Cov.: 32 AF XY: 0.829 AC XY: 61666 AN XY: 74414

African (AFR) AF: 0.743 AC: 30820 AN: 41474

American (AMR) AF: 0.851 AC: 13023 AN: 15298

Ashkenazi Jewish (ASJ) AF: 0.875 AC: 3039 AN: 3472

East Asian (EAS) AF: 0.993 AC: 5154 AN: 5188

South Asian (SAS) AF: 0.906 AC: 4366 AN: 4820

European-Finnish (FIN) AF: 0.887 AC: 9395 AN: 10596

Middle Eastern (MID) AF: 0.820 AC: 241 AN: 294

European-Non Finnish (NFE) AF: 0.827 AC: 56248 AN: 68008

Other (OTH) AF: 0.800 AC: 1690 AN: 2112

Alfa AF: 0.822 Hom.: 6401

Bravo AF: 0.813

Asia WGS AF: 0.932 AC: 3241 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.93
CADD	Benign	5.2
DANN	Benign	0.53
PhyloP100		0.18

Splicing

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

Other links and lift over

dbSNP: rs4755455; hg19: chr11-32903318;