rs4820274

Variant names:

• chr22-37221104-C-G
• rs4820274

Your query was ambiguous. Multiple possible variants found:

• chr22-37221104-C-G
• chr22-37221104-C-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 0.189 in 152,146 control chromosomes in the GnomAD database, including 3,179 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 0.19 (3179 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.23
• Publications: 7 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 (AFR) allele frequency at 95% confidence interval = 0.292 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: 0.189 AC: 28779 AN: 152028 Hom.: 3168 Cov.: 32

Gnomad AFR AF: 0.297

Gnomad AMI AF: 0.157

Gnomad AMR AF: 0.118

Gnomad ASJ AF: 0.201

Gnomad EAS AF: 0.294

Gnomad SAS AF: 0.119

Gnomad FIN AF: 0.150

Gnomad MID AF: 0.222

Gnomad NFE AF: 0.143

Gnomad OTH AF: 0.189

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

GnomAD4 genome AF: 0.189 AC: 28825 AN: 152146 Hom.: 3179 Cov.: 32 AF XY: 0.188 AC XY: 13987 AN XY: 74388

African (AFR) AF: 0.297 AC: 12315 AN: 41498

American (AMR) AF: 0.118 AC: 1808 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.201 AC: 698 AN: 3468

East Asian (EAS) AF: 0.293 AC: 1519 AN: 5180

South Asian (SAS) AF: 0.121 AC: 584 AN: 4820

European-Finnish (FIN) AF: 0.150 AC: 1585 AN: 10592

Middle Eastern (MID) AF: 0.231 AC: 68 AN: 294

European-Non Finnish (NFE) AF: 0.143 AC: 9705 AN: 67986

Other (OTH) AF: 0.189 AC: 400 AN: 2112

Alfa AF: 0.0672 Hom.: 69

Bravo AF: 0.193

Asia WGS AF: 0.214 AC: 746 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	0.40
DANN	Benign	0.53
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs4820274; hg19: chr22-37617144;