rs8190871

chr8-18223782-A-T

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.0862 in 152,162 control chromosomes in the GnomAD database, including 632 homozygotes. 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 0.086 (628 hom., cov: 32)
  • Exomes 𝑓: 0.12 (4 hom.)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 1.58

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (SAS) allele frequency at 95% confidence interval = 0.0894 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: 0.0862 AC: 13080 AN: 151736 Hom.: 629 Cov.: 32

Gnomad AFR AF: 0.0771

Gnomad AMI AF: 0.122

Gnomad AMR AF: 0.0608

Gnomad ASJ AF: 0.104

Gnomad EAS AF: 0.0137

Gnomad SAS AF: 0.0968

Gnomad FIN AF: 0.165

Gnomad MID AF: 0.0637

Gnomad NFE AF: 0.0891

Gnomad OTH AF: 0.0776

GnomAD4 exome AF: 0.124 AC: 38 AN: 306 Hom.: 4 AF XY: 0.111 AC XY: 21 AN XY: 190

Gnomad4 FIN exome AF: 0.123

Gnomad4 NFE exome AF: 0.167

GnomAD4 genome AF: 0.0861 AC: 13071 AN: 151856 Hom.: 628 Cov.: 32 AF XY: 0.0879 AC XY: 6519 AN XY: 74182

Gnomad4 AFR AF: 0.0768

Gnomad4 AMR AF: 0.0607

Gnomad4 ASJ AF: 0.104

Gnomad4 EAS AF: 0.0133

Gnomad4 SAS AF: 0.0967

Gnomad4 FIN AF: 0.165

Gnomad4 NFE AF: 0.0891

Gnomad4 OTH AF: 0.0773

Alfa AF: 0.0871 Hom.: 65

Bravo AF: 0.0776

Asia WGS AF: 0.0550 AC: 191 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
Cadd	Benign	3.2
Dann	Benign	0.67

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs8190871; hg19: chr8-18081291;