8-127510927-A-G

Variant names:

• chr8-127510927-A-G
• rs9297760

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 0.813 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
• Publications: 4 publications found

ACMG classification

Our verdict: Benign. The variant received -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 rank	MANE	Protein	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	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

African (AFR) AF: 0.709 AC: 29034 AN: 40944

American (AMR) AF: 0.840 AC: 12733 AN: 15162

Ashkenazi Jewish (ASJ) AF: 0.924 AC: 3206 AN: 3468

East Asian (EAS) AF: 0.757 AC: 3883 AN: 5128

South Asian (SAS) AF: 0.832 AC: 3952 AN: 4748

European-Finnish (FIN) AF: 0.800 AC: 8124 AN: 10158

Middle Eastern (MID) AF: 0.928 AC: 269 AN: 290

European-Non Finnish (NFE) AF: 0.867 AC: 58791 AN: 67822

Other (OTH) AF: 0.843 AC: 1767 AN: 2096

Alfa AF: 0.847 Hom.: 28194

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
PhyloP100		0.015

Splicing

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

Other links and lift over

dbSNP: rs9297760; hg19: chr8-128523172;