chr22-36206137-G-T

Variant names:

• chr22-36206137-G-T
• rs7364143

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 0.286 in 151,958 control chromosomes in the GnomAD database, including 6,881 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 0.29 (6881 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.30
• Publications: 7 publications found

ACMG classification

Our verdict: Benign. The variant received -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 = 0.395 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: 0.286 AC: 43480 AN: 151840 Hom.: 6874 Cov.: 32

Gnomad AFR AF: 0.401

Gnomad AMI AF: 0.400

Gnomad AMR AF: 0.223

Gnomad ASJ AF: 0.217

Gnomad EAS AF: 0.0306

Gnomad SAS AF: 0.194

Gnomad FIN AF: 0.211

Gnomad MID AF: 0.272

Gnomad NFE AF: 0.272

Gnomad OTH AF: 0.267

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

GnomAD4 genome AF: 0.286 AC: 43520 AN: 151958 Hom.: 6881 Cov.: 32 AF XY: 0.280 AC XY: 20779 AN XY: 74310

African (AFR) AF: 0.400 AC: 16569 AN: 41398

American (AMR) AF: 0.223 AC: 3403 AN: 15278

Ashkenazi Jewish (ASJ) AF: 0.217 AC: 750 AN: 3462

East Asian (EAS) AF: 0.0307 AC: 159 AN: 5176

South Asian (SAS) AF: 0.196 AC: 944 AN: 4812

European-Finnish (FIN) AF: 0.211 AC: 2227 AN: 10564

Middle Eastern (MID) AF: 0.293 AC: 86 AN: 294

European-Non Finnish (NFE) AF: 0.272 AC: 18463 AN: 67962

Other (OTH) AF: 0.264 AC: 557 AN: 2106

Alfa AF: 0.247 Hom.: 2489

Bravo AF: 0.292

Asia WGS AF: 0.111 AC: 390 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	0.60
DANN	Benign	0.60
PhyloP100		-1.3

Splicing

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

Other links and lift over

dbSNP: rs7364143; hg19: chr22-36602183;