8-127508234-A-T

Variant names:

• chr8-127508234-A-T
• rs7812894

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 0.878 in 152,078 control chromosomes in the GnomAD database, including 58,721 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 0.88 (58721 hom., cov: 31)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.623
• Publications: 17 publications found

ACMG classification

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

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.88).
• BA1: GnomAd4 highest subpopulation (AMR) allele frequency at 95% confidence interval = 0.905 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: 0.878 AC: 133423 AN: 151960 Hom.: 58685 Cov.: 31

Gnomad AFR AF: 0.833

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.918

Gnomad ASJ AF: 0.941

Gnomad EAS AF: 0.851

Gnomad SAS AF: 0.867

Gnomad FIN AF: 0.838

Gnomad MID AF: 0.949

Gnomad NFE AF: 0.901

Gnomad OTH AF: 0.901

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

GnomAD4 genome AF: 0.878 AC: 133515 AN: 152078 Hom.: 58721 Cov.: 31 AF XY: 0.877 AC XY: 65151 AN XY: 74312

African (AFR) AF: 0.834 AC: 34563 AN: 41466

American (AMR) AF: 0.918 AC: 14039 AN: 15294

Ashkenazi Jewish (ASJ) AF: 0.941 AC: 3266 AN: 3472

East Asian (EAS) AF: 0.851 AC: 4403 AN: 5176

South Asian (SAS) AF: 0.868 AC: 4186 AN: 4824

European-Finnish (FIN) AF: 0.838 AC: 8806 AN: 10512

Middle Eastern (MID) AF: 0.959 AC: 282 AN: 294

European-Non Finnish (NFE) AF: 0.901 AC: 61263 AN: 68026

Other (OTH) AF: 0.895 AC: 1884 AN: 2104

Alfa AF: 0.855 Hom.: 2694

Bravo AF: 0.880

Asia WGS AF: 0.811 AC: 2823 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.88
CADD	Benign	0.15
DANN	Benign	0.40
PhyloP100		-0.62

Splicing

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

Other links and lift over

dbSNP: rs7812894; hg19: chr8-128520479;