rs2927111

Variant names:

• chr8-106949196-G-A
• rs2927111

Variant summary

Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.841 in 152,176 control chromosomes in the GnomAD database, including 54,207 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 0.84 (54207 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.105
• Publications: 1 publications found

ACMG classification

Our verdict: Benign. The variant received -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.9).
• BA1: GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.873 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: 0.841 AC: 127823 AN: 152058 Hom.: 54158 Cov.: 31

Gnomad AFR AF: 0.880

Gnomad AMI AF: 0.880

Gnomad AMR AF: 0.805

Gnomad ASJ AF: 0.809

Gnomad EAS AF: 0.519

Gnomad SAS AF: 0.673

Gnomad FIN AF: 0.879

Gnomad MID AF: 0.782

Gnomad NFE AF: 0.857

Gnomad OTH AF: 0.827

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

GnomAD4 genome AF: 0.841 AC: 127926 AN: 152176 Hom.: 54207 Cov.: 31 AF XY: 0.837 AC XY: 62270 AN XY: 74392

African (AFR) AF: 0.880 AC: 36569 AN: 41538

American (AMR) AF: 0.804 AC: 12295 AN: 15296

Ashkenazi Jewish (ASJ) AF: 0.809 AC: 2808 AN: 3470

East Asian (EAS) AF: 0.519 AC: 2679 AN: 5164

South Asian (SAS) AF: 0.672 AC: 3232 AN: 4808

European-Finnish (FIN) AF: 0.879 AC: 9316 AN: 10594

Middle Eastern (MID) AF: 0.786 AC: 231 AN: 294

European-Non Finnish (NFE) AF: 0.857 AC: 58242 AN: 67986

Other (OTH) AF: 0.828 AC: 1751 AN: 2114

Alfa AF: 0.854 Hom.: 8222

Bravo AF: 0.839

Asia WGS AF: 0.661 AC: 2298 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.90
CADD	Benign	2.2
DANN	Benign	0.70
PhyloP100		0.10

Splicing

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

Other links and lift over

dbSNP: rs2927111; hg19: chr8-107961424;