22-46144361-AT-A

Position:

• chr22-46144361-AT-A

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.

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

• Frequency: Genomes: 𝑓 0.0016 (0 hom., cov: 0)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.259

Genes affected

(HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 0 ACMG points.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.46144362delT		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.00158 AC: 228 AN: 143886 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.000383

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00243

Gnomad ASJ AF: 0.000297

Gnomad EAS AF: 0.00102

Gnomad SAS AF: 0.000447

Gnomad FIN AF: 0.00766

Gnomad MID AF: 0.00331

Gnomad NFE AF: 0.00148

Gnomad OTH AF: 0.00204

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

GnomAD4 genome AF: 0.00160 AC: 230 AN: 143930 Hom.: 0 Cov.: 0 AF XY: 0.00192 AC XY: 134 AN XY: 69666

Gnomad4 AFR AF: 0.000433

Gnomad4 AMR AF: 0.00243

Gnomad4 ASJ AF: 0.000297

Gnomad4 EAS AF: 0.00103

Gnomad4 SAS AF: 0.000449

Gnomad4 FIN AF: 0.00766

Gnomad4 NFE AF: 0.00148

Gnomad4 OTH AF: 0.00203

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;