8-109166276-T-C

Position:

• chr8-109166276-T-C

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 0.327 in 152,078 control chromosomes in the GnomAD database, including 8,658 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 0.33 (8658 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.490

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.96).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.455 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: 0.327 AC: 49628 AN: 151962 Hom.: 8652 Cov.: 32

Gnomad AFR AF: 0.222

Gnomad AMI AF: 0.556

Gnomad AMR AF: 0.431

Gnomad ASJ AF: 0.198

Gnomad EAS AF: 0.469

Gnomad SAS AF: 0.428

Gnomad FIN AF: 0.392

Gnomad MID AF: 0.193

Gnomad NFE AF: 0.343

Gnomad OTH AF: 0.310

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

GnomAD4 genome AF: 0.327 AC: 49655 AN: 152078 Hom.: 8658 Cov.: 32 AF XY: 0.332 AC XY: 24685 AN XY: 74334

Gnomad4 AFR AF: 0.222

Gnomad4 AMR AF: 0.432

Gnomad4 ASJ AF: 0.198

Gnomad4 EAS AF: 0.470

Gnomad4 SAS AF: 0.428

Gnomad4 FIN AF: 0.392

Gnomad4 NFE AF: 0.343

Gnomad4 OTH AF: 0.314

Alfa AF: 0.258 Hom.: 934

Bravo AF: 0.325

Asia WGS AF: 0.472 AC: 1640 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.96
CADD	Benign	5.4
DANN	Benign	0.42

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs4734197; hg19: chr8-110178505;