8-110273886-C-G

Variant names:

• chr8-110273886-C-G
• rs3019325

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 0.74 in 152,028 control chromosomes in the GnomAD database, including 42,527 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 0.74 (42527 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0630

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.92).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.875 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.740 AC: 112399 AN: 151910 Hom.: 42479 Cov.: 31

Gnomad AFR AF: 0.883

Gnomad AMI AF: 0.599

Gnomad AMR AF: 0.621

Gnomad ASJ AF: 0.670

Gnomad EAS AF: 0.847

Gnomad SAS AF: 0.743

Gnomad FIN AF: 0.703

Gnomad MID AF: 0.620

Gnomad NFE AF: 0.684

Gnomad OTH AF: 0.694

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

GnomAD4 genome AF: 0.740 AC: 112503 AN: 152028 Hom.: 42527 Cov.: 31 AF XY: 0.738 AC XY: 54846 AN XY: 74312

Gnomad4 AFR AF: 0.883

Gnomad4 AMR AF: 0.620

Gnomad4 ASJ AF: 0.670

Gnomad4 EAS AF: 0.847

Gnomad4 SAS AF: 0.744

Gnomad4 FIN AF: 0.703

Gnomad4 NFE AF: 0.684

Gnomad4 OTH AF: 0.697

Alfa AF: 0.722 Hom.: 4712

Bravo AF: 0.735

Asia WGS AF: 0.794 AC: 2754 AN: 3472

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.92
CADD	Benign	3.2
DANN	Benign	0.25

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs3019325; hg19: chr8-111286115;