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. Variant got -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

ACMG classification

Verdict is Benign. Variant got -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

Gnomad4 AFR AF: 0.551

Gnomad4 AMR AF: 0.764

Gnomad4 ASJ AF: 0.753

Gnomad4 EAS AF: 0.670

Gnomad4 SAS AF: 0.716

Gnomad4 FIN AF: 0.787

Gnomad4 NFE AF: 0.737

Gnomad4 OTH AF: 0.696

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

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs5756381; hg19: chr22-37277616;