8-26678069-A-G

Position:

• chr8-26678069-A-G

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 0.453 in 152,102 control chromosomes in the GnomAD database, including 16,580 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 0.45 (16580 hom., cov: 33)
• Consequence: intergenic_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0480

Genes affected

(HGNC:):

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.91).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.528 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	Protein	UniProt
		n.26678069A>G		intergenic_region

Ensembl

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

Frequencies

GnomAD3 genomes AF: 0.453 AC: 68887 AN: 151982 Hom.: 16583 Cov.: 33

Gnomad AFR AF: 0.339

Gnomad AMI AF: 0.516

Gnomad AMR AF: 0.331

Gnomad ASJ AF: 0.485

Gnomad EAS AF: 0.500

Gnomad SAS AF: 0.339

Gnomad FIN AF: 0.588

Gnomad MID AF: 0.376

Gnomad NFE AF: 0.533

Gnomad OTH AF: 0.428

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

GnomAD4 genome AF: 0.453 AC: 68901 AN: 152102 Hom.: 16580 Cov.: 33 AF XY: 0.449 AC XY: 33357 AN XY: 74334

Gnomad4 AFR AF: 0.339

Gnomad4 AMR AF: 0.330

Gnomad4 ASJ AF: 0.485

Gnomad4 EAS AF: 0.500

Gnomad4 SAS AF: 0.338

Gnomad4 FIN AF: 0.588

Gnomad4 NFE AF: 0.533

Gnomad4 OTH AF: 0.426

Alfa AF: 0.497 Hom.: 8095

Bravo AF: 0.432

Asia WGS AF: 0.413 AC: 1437 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.91
CADD	Benign	1.5
DANN	Benign	0.54

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs1561817; hg19: chr8-26535586;