8-111866027-C-G

Variant names:

• chr8-111866027-C-G
• rs16882778

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 0.12 in 151,982 control chromosomes in the GnomAD database, including 1,850 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 0.12 (1850 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0470

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.94).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.274 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: 0.120 AC: 18219 AN: 151866 Hom.: 1849 Cov.: 31

Gnomad AFR AF: 0.279

Gnomad AMI AF: 0.0683

Gnomad AMR AF: 0.0719

Gnomad ASJ AF: 0.0706

Gnomad EAS AF: 0.0508

Gnomad SAS AF: 0.0513

Gnomad FIN AF: 0.0343

Gnomad MID AF: 0.0573

Gnomad NFE AF: 0.0615

Gnomad OTH AF: 0.109

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

GnomAD4 genome AF: 0.120 AC: 18250 AN: 151982 Hom.: 1850 Cov.: 31 AF XY: 0.117 AC XY: 8691 AN XY: 74298

Gnomad4 AFR AF: 0.279

Gnomad4 AMR AF: 0.0718

Gnomad4 ASJ AF: 0.0706

Gnomad4 EAS AF: 0.0507

Gnomad4 SAS AF: 0.0509

Gnomad4 FIN AF: 0.0343

Gnomad4 NFE AF: 0.0615

Gnomad4 OTH AF: 0.110

Alfa AF: 0.0828 Hom.: 110

Bravo AF: 0.130

Asia WGS AF: 0.0790 AC: 276 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.94
CADD	Benign	1.8
DANN	Benign	0.53

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs16882778; hg19: chr8-112878256;