8-127510927-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 0.813 in 150,728 control chromosomes in the GnomAD database, including 50,217 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 0.81 (50217 hom., cov: 25)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.0150

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.861 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: 0.813 AC: 122523 AN: 150616 Hom.: 50197 Cov.: 25

Gnomad AFR AF: 0.709

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.841

Gnomad ASJ AF: 0.924

Gnomad EAS AF: 0.757

Gnomad SAS AF: 0.832

Gnomad FIN AF: 0.800

Gnomad MID AF: 0.920

Gnomad NFE AF: 0.867

Gnomad OTH AF: 0.850

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

GnomAD4 genome AF: 0.813 AC: 122583 AN: 150728 Hom.: 50217 Cov.: 25 AF XY: 0.812 AC XY: 59657 AN XY: 73470

Gnomad4 AFR AF: 0.709

Gnomad4 AMR AF: 0.840

Gnomad4 ASJ AF: 0.924

Gnomad4 EAS AF: 0.757

Gnomad4 SAS AF: 0.832

Gnomad4 FIN AF: 0.800

Gnomad4 NFE AF: 0.867

Gnomad4 OTH AF: 0.843

Alfa AF: 0.841 Hom.: 15310

Bravo AF: 0.808

Asia WGS AF: 0.731 AC: 2545 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
Cadd	Benign	6.1
Dann	Benign	0.79

Splicing

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

Publications

LitVar

Other links and lift over

dbSNP: rs9297760; hg19: chr8-128523172;