rs737822

Variant names:

• chr22-45846911-A-G
• rs737822

Your query was ambiguous. Multiple possible variants found:

• chr22-45846911-A-G
• chr22-45846911-A-T

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 0.38 in 152,084 control chromosomes in the GnomAD database, including 11,532 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 0.38 (11532 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.434
• 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 (NFE) allele frequency at 95% confidence interval = 0.434 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Ensembl Transcripts

Selected	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
There are no transcript annotations for this variant.

Frequencies

GnomAD3 genomes AF: 0.381 AC: 57845 AN: 151966 Hom.: 11523 Cov.: 32

Gnomad AFR AF: 0.249

Gnomad AMI AF: 0.489

Gnomad AMR AF: 0.432

Gnomad ASJ AF: 0.436

Gnomad EAS AF: 0.275

Gnomad SAS AF: 0.432

Gnomad FIN AF: 0.444

Gnomad MID AF: 0.484

Gnomad NFE AF: 0.438

Gnomad OTH AF: 0.413

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

GnomAD4 genome AF: 0.380 AC: 57859 AN: 152084 Hom.: 11532 Cov.: 32 AF XY: 0.381 AC XY: 28314 AN XY: 74354

African (AFR) AF: 0.248 AC: 10302 AN: 41486

American (AMR) AF: 0.433 AC: 6610 AN: 15280

Ashkenazi Jewish (ASJ) AF: 0.436 AC: 1515 AN: 3472

East Asian (EAS) AF: 0.275 AC: 1424 AN: 5174

South Asian (SAS) AF: 0.430 AC: 2072 AN: 4816

European-Finnish (FIN) AF: 0.444 AC: 4696 AN: 10566

Middle Eastern (MID) AF: 0.486 AC: 143 AN: 294

European-Non Finnish (NFE) AF: 0.438 AC: 29787 AN: 67976

Other (OTH) AF: 0.410 AC: 865 AN: 2110

Alfa AF: 0.402 Hom.: 2817

Bravo AF: 0.373

Asia WGS AF: 0.333 AC: 1163 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	8.5
DANN	Benign	0.79
PhyloP100		0.43

Splicing

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

Other links and lift over

dbSNP: rs737822; hg19: chr22-46242791;