rs131794

Variant names:

• chr22-50533323-A-C
• rs131794

Your query was ambiguous. Multiple possible variants found:

• chr22-50533323-A-C
• chr22-50533323-A-G
• chr22-50533323-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 0.785 in 151,858 control chromosomes in the GnomAD database, including 47,075 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 0.78 (47075 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.339

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.938 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: 0.785 AC: 119129 AN: 151740 Hom.: 47049 Cov.: 31

Gnomad AFR AF: 0.725

Gnomad AMI AF: 0.873

Gnomad AMR AF: 0.826

Gnomad ASJ AF: 0.755

Gnomad EAS AF: 0.960

Gnomad SAS AF: 0.892

Gnomad FIN AF: 0.830

Gnomad MID AF: 0.797

Gnomad NFE AF: 0.785

Gnomad OTH AF: 0.781

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

GnomAD4 genome AF: 0.785 AC: 119203 AN: 151858 Hom.: 47075 Cov.: 31 AF XY: 0.790 AC XY: 58606 AN XY: 74182

Gnomad4 AFR AF: 0.724

Gnomad4 AMR AF: 0.826

Gnomad4 ASJ AF: 0.755

Gnomad4 EAS AF: 0.960

Gnomad4 SAS AF: 0.890

Gnomad4 FIN AF: 0.830

Gnomad4 NFE AF: 0.785

Gnomad4 OTH AF: 0.784

Alfa AF: 0.788 Hom.: 43568

Bravo AF: 0.784

Asia WGS AF: 0.907 AC: 3155 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	4.7
DANN	Benign	0.33

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs131794; hg19: chr22-50971752;