8-127520154-A-G

Variant names:

• chr8-127520154-A-G
• rs4515512

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 0.902 in 152,062 control chromosomes in the GnomAD database, including 61,934 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 0.90 (61934 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.21
• Publications: 8 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.98).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.914 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: 0.902 AC: 137060 AN: 151944 Hom.: 61886 Cov.: 31

Gnomad AFR AF: 0.916

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.927

Gnomad ASJ AF: 0.938

Gnomad EAS AF: 0.857

Gnomad SAS AF: 0.868

Gnomad FIN AF: 0.839

Gnomad MID AF: 0.943

Gnomad NFE AF: 0.901

Gnomad OTH AF: 0.916

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

GnomAD4 genome AF: 0.902 AC: 137164 AN: 152062 Hom.: 61934 Cov.: 31 AF XY: 0.899 AC XY: 66824 AN XY: 74306

African (AFR) AF: 0.916 AC: 37999 AN: 41490

American (AMR) AF: 0.926 AC: 14162 AN: 15288

Ashkenazi Jewish (ASJ) AF: 0.938 AC: 3256 AN: 3472

East Asian (EAS) AF: 0.857 AC: 4447 AN: 5188

South Asian (SAS) AF: 0.868 AC: 4184 AN: 4818

European-Finnish (FIN) AF: 0.839 AC: 8817 AN: 10512

Middle Eastern (MID) AF: 0.952 AC: 280 AN: 294

European-Non Finnish (NFE) AF: 0.901 AC: 61272 AN: 67978

Other (OTH) AF: 0.911 AC: 1923 AN: 2110

Alfa AF: 0.899 Hom.: 10598

Bravo AF: 0.908

Asia WGS AF: 0.832 AC: 2894 AN: 3476

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.98
CADD	Benign	0.26
DANN	Benign	0.70
PhyloP100		-1.2

Splicing

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

Other links and lift over

dbSNP: rs4515512; hg19: chr8-128532399;