rs11766273

Variant names:

• chr7-22736044-G-A
• rs11766273

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 0.0553 in 152,220 control chromosomes in the GnomAD database, including 346 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 0.055 (346 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.332
• Publications: 26 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.0756 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: 0.0553 AC: 8414 AN: 152102 Hom.: 345 Cov.: 32

Gnomad AFR AF: 0.0125

Gnomad AMI AF: 0.0570

Gnomad AMR AF: 0.0310

Gnomad ASJ AF: 0.0412

Gnomad EAS AF: 0.000192

Gnomad SAS AF: 0.0288

Gnomad FIN AF: 0.164

Gnomad MID AF: 0.00633

Gnomad NFE AF: 0.0774

Gnomad OTH AF: 0.0411

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

GnomAD4 genome AF: 0.0553 AC: 8413 AN: 152220 Hom.: 346 Cov.: 32 AF XY: 0.0571 AC XY: 4250 AN XY: 74402

African (AFR) AF: 0.0125 AC: 518 AN: 41562

American (AMR) AF: 0.0311 AC: 475 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.0412 AC: 143 AN: 3470

East Asian (EAS) AF: 0.000193 AC: 1 AN: 5188

South Asian (SAS) AF: 0.0286 AC: 138 AN: 4822

European-Finnish (FIN) AF: 0.164 AC: 1736 AN: 10568

Middle Eastern (MID) AF: 0.00680 AC: 2 AN: 294

European-Non Finnish (NFE) AF: 0.0774 AC: 5262 AN: 68000

Other (OTH) AF: 0.0407 AC: 86 AN: 2114

Alfa AF: 0.0634 Hom.: 296

Bravo AF: 0.0436

Asia WGS AF: 0.0100 AC: 37 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	5.9
DANN	Benign	0.60
PhyloP100		0.33

Splicing

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

Other links and lift over

dbSNP: rs11766273; hg19: chr7-22775663;