rs1081166

chr22-12203070-A-C

Variant summary

Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong

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 0.031 (0 hom., cov: 47)
  • Failed GnomAD Quality Control
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.162

ACMG classification

Verdict is Likely_benign. Variant got -4 ACMG points.

• BP4: Computational evidence support a benign effect (Cadd=6.962).

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: 0.00 AC: 3799 AN: 122106 Hom.: 0 Cov.: 47 FAILED QC

Gnomad AFR AF: 0.0436

Gnomad AMI AF: 0.0303

Gnomad AMR AF: 0.0326

Gnomad ASJ AF: 0.0329

Gnomad EAS AF: 0.0755

Gnomad SAS AF: 0.0346

Gnomad FIN AF: 0.0302

Gnomad MID AF: 0.0652

Gnomad NFE AF: 0.0200

Gnomad OTH AF: 0.0456

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

GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0311 AC: 3802 AN: 122202 Hom.: 0 Cov.: 47 AF XY: 0.0320 AC XY: 1918 AN XY: 59964

Gnomad4 AFR AF: 0.0435

Gnomad4 AMR AF: 0.0327

Gnomad4 ASJ AF: 0.0329

Gnomad4 EAS AF: 0.0759

Gnomad4 SAS AF: 0.0344

Gnomad4 FIN AF: 0.0302

Gnomad4 NFE AF: 0.0200

Gnomad4 OTH AF: 0.0451

Alfa AF: 0.0635 Hom.: 0

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
Cadd	Benign	7.0

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1081166; hg19: -;