22-46144361-ATTTTTT-ATTTTTTT

Position:

• chr22-46144361-ATTTTTT-ATTTTTTT

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 0.29 (6360 hom., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.259

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -8 ACMG points.

• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.337 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.46144361_46144362insT		intergenic_region

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.294 AC: 42356 AN: 143966 Hom.: 6354 Cov.: 0

Gnomad AFR AF: 0.342

Gnomad AMI AF: 0.470

Gnomad AMR AF: 0.216

Gnomad ASJ AF: 0.229

Gnomad EAS AF: 0.0850

Gnomad SAS AF: 0.210

Gnomad FIN AF: 0.265

Gnomad MID AF: 0.227

Gnomad NFE AF: 0.309

Gnomad OTH AF: 0.299

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

GnomAD4 genome AF: 0.294 AC: 42390 AN: 144014 Hom.: 6360 Cov.: 0 AF XY: 0.288 AC XY: 20077 AN XY: 69730

Gnomad4 AFR AF: 0.342

Gnomad4 AMR AF: 0.216

Gnomad4 ASJ AF: 0.229

Gnomad4 EAS AF: 0.0851

Gnomad4 SAS AF: 0.210

Gnomad4 FIN AF: 0.265

Gnomad4 NFE AF: 0.309

Gnomad4 OTH AF: 0.297

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: rs135558; hg19: chr22-46540236;