22-36279104-A-G

Variant names:

• chr22-36279104-A-G
• rs136196

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 0.646 in 152,016 control chromosomes in the GnomAD database, including 31,852 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 0.65 (31852 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.07
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.97).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.782 is higher than 0.05.

Variant Effect in Transcripts

 

RefSeq Transcripts

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

Ensembl Transcripts

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

Frequencies

GnomAD3 genomes AF: 0.646 AC: 98155 AN: 151898 Hom.: 31807 Cov.: 32

Gnomad AFR AF: 0.619

Gnomad AMI AF: 0.775

Gnomad AMR AF: 0.682

Gnomad ASJ AF: 0.569

Gnomad EAS AF: 0.801

Gnomad SAS AF: 0.651

Gnomad FIN AF: 0.675

Gnomad MID AF: 0.532

Gnomad NFE AF: 0.641

Gnomad OTH AF: 0.642

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

GnomAD4 genome AF: 0.646 AC: 98254 AN: 152016 Hom.: 31852 Cov.: 32 AF XY: 0.650 AC XY: 48320 AN XY: 74310

African (AFR) AF: 0.619 AC: 25645 AN: 41424

American (AMR) AF: 0.683 AC: 10444 AN: 15290

Ashkenazi Jewish (ASJ) AF: 0.569 AC: 1974 AN: 3470

East Asian (EAS) AF: 0.802 AC: 4159 AN: 5186

South Asian (SAS) AF: 0.650 AC: 3133 AN: 4818

European-Finnish (FIN) AF: 0.675 AC: 7123 AN: 10560

Middle Eastern (MID) AF: 0.537 AC: 158 AN: 294

European-Non Finnish (NFE) AF: 0.641 AC: 43547 AN: 67954

Other (OTH) AF: 0.647 AC: 1364 AN: 2108

Alfa AF: 0.637 Hom.: 14895

Bravo AF: 0.643

Asia WGS AF: 0.750 AC: 2608 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.97
CADD	Benign	1.8
DANN	Benign	0.34
PhyloP100		-1.1

Splicing

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

Other links and lift over

dbSNP: rs136196; hg19: chr22-36675150;