22-36188350-C-G

Variant names:

• chr22-36188350-C-G
• rs916336

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 0.562 in 152,184 control chromosomes in the GnomAD database, including 24,689 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 0.56 (24689 hom., cov: 34)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.707
• Publications: 1 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.797 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: 0.562 AC: 85489 AN: 152066 Hom.: 24683 Cov.: 34

Gnomad AFR AF: 0.666

Gnomad AMI AF: 0.624

Gnomad AMR AF: 0.567

Gnomad ASJ AF: 0.473

Gnomad EAS AF: 0.818

Gnomad SAS AF: 0.572

Gnomad FIN AF: 0.555

Gnomad MID AF: 0.475

Gnomad NFE AF: 0.484

Gnomad OTH AF: 0.533

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

GnomAD4 genome AF: 0.562 AC: 85531 AN: 152184 Hom.: 24689 Cov.: 34 AF XY: 0.567 AC XY: 42194 AN XY: 74386

African (AFR) AF: 0.666 AC: 27645 AN: 41518

American (AMR) AF: 0.567 AC: 8660 AN: 15286

Ashkenazi Jewish (ASJ) AF: 0.473 AC: 1643 AN: 3470

East Asian (EAS) AF: 0.818 AC: 4225 AN: 5166

South Asian (SAS) AF: 0.570 AC: 2750 AN: 4826

European-Finnish (FIN) AF: 0.555 AC: 5878 AN: 10596

Middle Eastern (MID) AF: 0.466 AC: 137 AN: 294

European-Non Finnish (NFE) AF: 0.484 AC: 32903 AN: 68006

Other (OTH) AF: 0.531 AC: 1122 AN: 2112

Alfa AF: 0.516 Hom.: 2477

Bravo AF: 0.567

Asia WGS AF: 0.688 AC: 2386 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	6.5
DANN	Benign	0.76
PhyloP100		0.71

Splicing

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

Other links and lift over

dbSNP: rs916336; hg19: chr22-36584398; COSMIC: COSV60655311;