22-36206733-G-T

Variant names:

• chr22-36206733-G-T
• rs5995255

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 0.348 in 151,972 control chromosomes in the GnomAD database, including 9,641 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 0.35 (9641 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.225
• Publications: 7 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.42 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: 0.348 AC: 52780 AN: 151856 Hom.: 9624 Cov.: 32

Gnomad AFR AF: 0.424

Gnomad AMI AF: 0.250

Gnomad AMR AF: 0.349

Gnomad ASJ AF: 0.325

Gnomad EAS AF: 0.0342

Gnomad SAS AF: 0.153

Gnomad FIN AF: 0.352

Gnomad MID AF: 0.396

Gnomad NFE AF: 0.340

Gnomad OTH AF: 0.339

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

GnomAD4 genome AF: 0.348 AC: 52846 AN: 151972 Hom.: 9641 Cov.: 32 AF XY: 0.345 AC XY: 25618 AN XY: 74284

African (AFR) AF: 0.425 AC: 17595 AN: 41404

American (AMR) AF: 0.350 AC: 5342 AN: 15274

Ashkenazi Jewish (ASJ) AF: 0.325 AC: 1128 AN: 3472

East Asian (EAS) AF: 0.0345 AC: 179 AN: 5190

South Asian (SAS) AF: 0.153 AC: 738 AN: 4818

European-Finnish (FIN) AF: 0.352 AC: 3703 AN: 10532

Middle Eastern (MID) AF: 0.384 AC: 113 AN: 294

European-Non Finnish (NFE) AF: 0.340 AC: 23113 AN: 67968

Other (OTH) AF: 0.335 AC: 707 AN: 2108

Alfa AF: 0.336 Hom.: 24233

Bravo AF: 0.354

Asia WGS AF: 0.135 AC: 473 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	3.0
DANN	Benign	0.40
PhyloP100		0.23

Splicing

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

Other links and lift over

dbSNP: rs5995255; hg19: chr22-36602779;