22-40646358-T-TATC

Variant names:

• chr22-40646358-T-TATC
• rs133052

Variant summary

Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BA1

No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.82 (51601 hom., cov: 0)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.168

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.959 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: 0.817 AC: 123912 AN: 151626 Hom.: 51544 Cov.: 0

Gnomad AFR AF: 0.949

Gnomad AMI AF: 0.633

Gnomad AMR AF: 0.614

Gnomad ASJ AF: 0.821

Gnomad EAS AF: 0.982

Gnomad SAS AF: 0.842

Gnomad FIN AF: 0.802

Gnomad MID AF: 0.894

Gnomad NFE AF: 0.773

Gnomad OTH AF: 0.797

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

GnomAD4 genome AF: 0.817 AC: 124023 AN: 151744 Hom.: 51601 Cov.: 0 AF XY: 0.817 AC XY: 60520 AN XY: 74118

Gnomad4 AFR AF: 0.949

Gnomad4 AMR AF: 0.614

Gnomad4 ASJ AF: 0.821

Gnomad4 EAS AF: 0.982

Gnomad4 SAS AF: 0.842

Gnomad4 FIN AF: 0.802

Gnomad4 NFE AF: 0.773

Gnomad4 OTH AF: 0.799

Alfa AF: 0.713 Hom.: 1476

Bravo AF: 0.803

Asia WGS AF: 0.889 AC: 3084 AN: 3470

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs133052; hg19: chr22-41042362;