22-40646358-T-TATC

Position:

• chr22-40646358-T-TATC

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/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	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;