8-127507928-A-G

Variant names:

• chr8-127507928-A-G
• rs7812429

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 152,196 control chromosomes in the GnomAD database, including 61,998 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 (61998 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.609
• Publications: 15 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 (AMR) allele frequency at 95% confidence interval = 0.912 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: 137189 AN: 152078 Hom.: 61954 Cov.: 32

Gnomad AFR AF: 0.918

Gnomad AMI AF: 0.904

Gnomad AMR AF: 0.925

Gnomad ASJ AF: 0.941

Gnomad EAS AF: 0.852

Gnomad SAS AF: 0.868

Gnomad FIN AF: 0.839

Gnomad MID AF: 0.949

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: 137290 AN: 152196 Hom.: 61998 Cov.: 32 AF XY: 0.899 AC XY: 66899 AN XY: 74386

African (AFR) AF: 0.918 AC: 38121 AN: 41542

American (AMR) AF: 0.925 AC: 14159 AN: 15306

Ashkenazi Jewish (ASJ) AF: 0.941 AC: 3264 AN: 3470

East Asian (EAS) AF: 0.852 AC: 4408 AN: 5172

South Asian (SAS) AF: 0.869 AC: 4182 AN: 4814

European-Finnish (FIN) AF: 0.839 AC: 8854 AN: 10556

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

European-Non Finnish (NFE) AF: 0.901 AC: 61272 AN: 68018

Other (OTH) AF: 0.911 AC: 1924 AN: 2112

Alfa AF: 0.899 Hom.: 39703

Bravo AF: 0.907

Asia WGS AF: 0.823 AC: 2864 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	0.58
DANN	Benign	0.59
PhyloP100		-0.61

Splicing

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

Other links and lift over

dbSNP: rs7812429; hg19: chr8-128520173;