chr22-36213693-C-T

Variant names:

• chr22-36213693-C-T
• rs4820222

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.474 in 151,928 control chromosomes in the GnomAD database, including 18,700 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 0.47 (18700 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.06

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.01).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.674 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: 0.474 AC: 71940 AN: 151810 Hom.: 18681 Cov.: 32

Gnomad AFR AF: 0.681

Gnomad AMI AF: 0.490

Gnomad AMR AF: 0.423

Gnomad ASJ AF: 0.344

Gnomad EAS AF: 0.129

Gnomad SAS AF: 0.373

Gnomad FIN AF: 0.370

Gnomad MID AF: 0.538

Gnomad NFE AF: 0.416

Gnomad OTH AF: 0.459

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

GnomAD4 genome AF: 0.474 AC: 72012 AN: 151928 Hom.: 18700 Cov.: 32 AF XY: 0.467 AC XY: 34663 AN XY: 74260

Gnomad4 AFR AF: 0.680

Gnomad4 AMR AF: 0.423

Gnomad4 ASJ AF: 0.344

Gnomad4 EAS AF: 0.130

Gnomad4 SAS AF: 0.372

Gnomad4 FIN AF: 0.370

Gnomad4 NFE AF: 0.416

Gnomad4 OTH AF: 0.459

Alfa AF: 0.404 Hom.: 6136

Bravo AF: 0.491

Asia WGS AF: 0.302 AC: 1058 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	1.0
DANN	Benign	0.13

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4820222; hg19: chr22-36609739;