rs5756381

Variant names:

• chr22-36881574-A-G
• rs5756381

Your query was ambiguous. Multiple possible variants found:

• chr22-36881574-A-G
• chr22-36881574-A-T

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 0.688 in 152,080 control chromosomes in the GnomAD database, including 36,620 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 0.69 (36620 hom., cov: 33)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.792
• Publications: 5 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-1.03).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.752 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: 0.689 AC: 104640 AN: 151962 Hom.: 36600 Cov.: 33

Gnomad AFR AF: 0.551

Gnomad AMI AF: 0.620

Gnomad AMR AF: 0.763

Gnomad ASJ AF: 0.753

Gnomad EAS AF: 0.671

Gnomad SAS AF: 0.717

Gnomad FIN AF: 0.787

Gnomad MID AF: 0.604

Gnomad NFE AF: 0.737

Gnomad OTH AF: 0.694

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

GnomAD4 genome AF: 0.688 AC: 104703 AN: 152080 Hom.: 36620 Cov.: 33 AF XY: 0.693 AC XY: 51529 AN XY: 74344

African (AFR) AF: 0.551 AC: 22856 AN: 41480

American (AMR) AF: 0.764 AC: 11676 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.753 AC: 2614 AN: 3470

East Asian (EAS) AF: 0.670 AC: 3468 AN: 5174

South Asian (SAS) AF: 0.716 AC: 3452 AN: 4822

European-Finnish (FIN) AF: 0.787 AC: 8293 AN: 10544

Middle Eastern (MID) AF: 0.609 AC: 179 AN: 294

European-Non Finnish (NFE) AF: 0.737 AC: 50134 AN: 67990

Other (OTH) AF: 0.696 AC: 1468 AN: 2110

Alfa AF: 0.704 Hom.: 5538

Bravo AF: 0.679

Asia WGS AF: 0.730 AC: 2534 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-1.0
CADD	Benign	2.0
DANN	Benign	0.50
PhyloP100		-0.79

Splicing

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

Other links and lift over

dbSNP: rs5756381; hg19: chr22-37277616;