rs2228703

Variant names:

• chr22-36558581-G-A
• rs2228703

Your query was ambiguous. Multiple possible variants found:

• chr22-36558581-G-A
• chr22-36558581-G-C
• chr22-36558581-G-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 0.256 in 152,136 control chromosomes in the GnomAD database, including 5,223 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 0.26 (5223 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.189
• Publications: 2 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.328 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: 0.256 AC: 38848 AN: 152020 Hom.: 5220 Cov.: 33

Gnomad AFR AF: 0.178

Gnomad AMI AF: 0.265

Gnomad AMR AF: 0.335

Gnomad ASJ AF: 0.173

Gnomad EAS AF: 0.316

Gnomad SAS AF: 0.222

Gnomad FIN AF: 0.249

Gnomad MID AF: 0.206

Gnomad NFE AF: 0.288

Gnomad OTH AF: 0.274

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

GnomAD4 genome AF: 0.256 AC: 38873 AN: 152136 Hom.: 5223 Cov.: 33 AF XY: 0.256 AC XY: 19070 AN XY: 74386

African (AFR) AF: 0.178 AC: 7380 AN: 41516

American (AMR) AF: 0.335 AC: 5133 AN: 15300

Ashkenazi Jewish (ASJ) AF: 0.173 AC: 602 AN: 3470

East Asian (EAS) AF: 0.316 AC: 1635 AN: 5180

South Asian (SAS) AF: 0.222 AC: 1073 AN: 4824

European-Finnish (FIN) AF: 0.249 AC: 2636 AN: 10590

Middle Eastern (MID) AF: 0.194 AC: 57 AN: 294

European-Non Finnish (NFE) AF: 0.288 AC: 19540 AN: 67940

Other (OTH) AF: 0.273 AC: 575 AN: 2110

Alfa AF: 0.277 Hom.: 17699

Bravo AF: 0.258

Asia WGS AF: 0.263 AC: 914 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	1.6
DANN	Benign	0.33
PhyloP100		0.19

Splicing

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

Other links and lift over

dbSNP: rs2228703; hg19: chr22-36954628;